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Supporting Variant Placements for estd236
Study IDVariant IDVariant Region typeVariant Call typeSampleset IDMethodAnalysis IDValidationVariant samplesSubject phenotypeClinical InterpretationAssemblyAccessionChrOuter-StartStartInner-StartInner-EndEndOuter-EndPlacement TypeRemap Score
estd236essv26067102interchromosomal translocationMergingMergingNo1002GRCh37 (hg19)NC_000003.113174480426174480426Submitted genomic
estd236essv26067102interchromosomal translocationMergingMergingNo1002GRCh37 (hg19)NC_000008.1083271699432716994Submitted genomic
estd236essv26067102interchromosomal translocationMergingMergingNo1002GRCh37 (hg19)NC_000003.113174480426174480426Submitted genomic
estd236essv26067102interchromosomal translocationMergingMergingNo1002GRCh37 (hg19)NC_000008.1083271699432716994Submitted genomic
estd236essv26067103intrachromosomal translocationMergingMergingNo1002GRCh37 (hg19)NC_000003.113143880432143880432Submitted genomic
estd236essv26067103intrachromosomal translocationMergingMergingNo1002GRCh37 (hg19)NC_000003.113174724062174724062Submitted genomic
estd236essv26067103intrachromosomal translocationMergingMergingNo1002GRCh37 (hg19)NC_000003.113143880432143880432Submitted genomic
estd236essv26067103intrachromosomal translocationMergingMergingNo1002GRCh37 (hg19)NC_000003.113174724062174724062Submitted genomic
estd236essv26067103intrachromosomal translocationMergingMergingNo1002GRCh38.p12NC_000003.123144161590144161590Remapped1
estd236essv26067103intrachromosomal translocationMergingMergingNo1002GRCh38.p12NC_000003.123175006272175006272Remapped1
estd236essv26067104intrachromosomal translocationMergingMergingNo1960GRCh37 (hg19)NC_000006.116123371911123371911Submitted genomic
estd236essv26067104intrachromosomal translocationMergingMergingNo1960GRCh37 (hg19)NC_000006.11667939926793992Submitted genomic
estd236essv26067104intrachromosomal translocationMergingMergingNo1960GRCh37 (hg19)NC_000006.116123371911123371911Submitted genomic
estd236essv26067104intrachromosomal translocationMergingMergingNo1960GRCh37 (hg19)NC_000006.11667939926793992Submitted genomic
estd236essv26067104intrachromosomal translocationMergingMergingNo1960GRCh38.p12NC_000006.126123050766123050766Remapped1
estd236essv26067104intrachromosomal translocationMergingMergingNo1960GRCh38.p12NC_000006.12667937596793759Remapped1
estd236essv26067105interchromosomal translocationMergingMergingNo286GRCh37 (hg19)NC_000014.8148699798686997986Submitted genomic
estd236essv26067105interchromosomal translocationMergingMergingNo286GRCh37 (hg19)NC_000006.1169176253991762539Submitted genomic
estd236essv26067105interchromosomal translocationMergingMergingNo286GRCh37 (hg19)NC_000014.8148699798686997986Submitted genomic
estd236essv26067105interchromosomal translocationMergingMergingNo286GRCh37 (hg19)NC_000006.1169176253991762539Submitted genomic
estd236essv26067105interchromosomal translocationMergingMergingNo286GRCh38.p12NC_000014.9148653164286531642Remapped1
estd236essv26067105interchromosomal translocationMergingMergingNo286GRCh38.p12NC_000006.1269105282191052821Remapped1
estd236essv26067106interchromosomal translocationMergingMergingNo1959Delayed speech and language development;Global developmental delay;Hypospadias;Patent ductus arteriosus after premature birthGRCh37 (hg19)NC_000006.116111349988111349988Submitted genomic
estd236essv26067106interchromosomal translocationMergingMergingNo1959Delayed speech and language development;Global developmental delay;Hypospadias;Patent ductus arteriosus after premature birthGRCh37 (hg19)NC_000007.137132596053132596053Submitted genomic
estd236essv26067106interchromosomal translocationMergingMergingNo1959Delayed speech and language development;Global developmental delay;Hypospadias;Patent ductus arteriosus after premature birthGRCh37 (hg19)NC_000006.116111349988111349988Submitted genomic
estd236essv26067106interchromosomal translocationMergingMergingNo1959Delayed speech and language development;Global developmental delay;Hypospadias;Patent ductus arteriosus after premature birthGRCh37 (hg19)NC_000007.137132596053132596053Submitted genomic
estd236essv26067107interchromosomal translocationMergingMergingNo1960GRCh37 (hg19)NC_000006.1168468489484684894Submitted genomic
estd236essv26067107interchromosomal translocationMergingMergingNo1960GRCh37 (hg19)NC_000006.1168468489484684894Submitted genomic
estd236essv26067107interchromosomal translocationMergingMergingNo1960GRCh38.p12NC_000015.10154063466440634664Remapped1
estd236essv26067107interchromosomal translocationMergingMergingNo1960GRCh38.p12NC_000006.1268397517583975175Remapped1
estd236essv26067108intrachromosomal translocationMergingMergingNo1002GRCh37 (hg19)NC_000003.113125695544125695544Submitted genomic
estd236essv26067108intrachromosomal translocationMergingMergingNo1002GRCh37 (hg19)NC_000003.113174480425174480425Submitted genomic
estd236essv26067108intrachromosomal translocationMergingMergingNo1002GRCh37 (hg19)NC_000003.113125695544125695544Submitted genomic
estd236essv26067108intrachromosomal translocationMergingMergingNo1002GRCh37 (hg19)NC_000003.113174480425174480425Submitted genomic
estd236essv26067108intrachromosomal translocationMergingMergingNo1002GRCh38.p12NC_000003.123125976701125976701Remapped1
estd236essv26067108intrachromosomal translocationMergingMergingNo1002GRCh38.p12NC_000003.123174762635174762635Remapped1
estd236essv26067109inversionMergingMergingNo1002GRCh37 (hg19)NC_000003.113125695543125695543Submitted genomic
estd236essv26067109inversionMergingMergingNo1002GRCh37 (hg19)NC_000003.113133464556133464556Submitted genomic
estd236essv26067109inversionMergingMergingNo1002GRCh37 (hg19)NC_000003.113125695543125695543Submitted genomic
estd236essv26067109inversionMergingMergingNo1002GRCh37 (hg19)NC_000003.113133464556133464556Submitted genomic
estd236essv26067109inversionMergingMergingNo1002GRCh38.p12NC_000003.123125976700125976700Remapped1
estd236essv26067109inversionMergingMergingNo1002GRCh38.p12NC_000003.123133745712133745712Remapped1
estd236essv26067110interchromosomal translocationMergingMergingNo1960GRCh37 (hg19)NC_000006.116111349988111349988Submitted genomic
estd236essv26067110interchromosomal translocationMergingMergingNo1960GRCh37 (hg19)NC_000007.137132596053132596053Submitted genomic
estd236essv26067110interchromosomal translocationMergingMergingNo1960GRCh37 (hg19)NC_000006.116111349988111349988Submitted genomic
estd236essv26067110interchromosomal translocationMergingMergingNo1960GRCh37 (hg19)NC_000007.137132596053132596053Submitted genomic
estd236essv26067110interchromosomal translocationMergingMergingNo1960GRCh38.p12NC_000006.126111028785111028785Remapped1
estd236essv26067110interchromosomal translocationMergingMergingNo1960GRCh38.p12NC_000007.147132911293132911293Remapped1
estd236essv26067111copy number lossMergingMergingNo1959Delayed speech and language development;Global developmental delay;Hypospadias;Patent ductus arteriosus after premature birthGRCh37 (hg19)NC_000007.137132591756132596053Submitted genomic
estd236essv26067111copy number lossMergingMergingNo1959Delayed speech and language development;Global developmental delay;Hypospadias;Patent ductus arteriosus after premature birthGRCh37 (hg19)NC_000007.137132591756132596053Submitted genomic
estd236essv26067112interchromosomal translocationMergingMergingNo1960GRCh37 (hg19)NC_000006.1168468479384684793Submitted genomic
estd236essv26067112interchromosomal translocationMergingMergingNo1960GRCh37 (hg19)NC_000006.1168468479384684793Submitted genomic
estd236essv26067112interchromosomal translocationMergingMergingNo1960GRCh38.p12NC_000015.10154063467640634676Remapped1
estd236essv26067112interchromosomal translocationMergingMergingNo1960GRCh38.p12NC_000006.1268397507483975074Remapped1
estd236essv26067113interchromosomal translocationMergingMergingNo1959Delayed speech and language development;Global developmental delay;Hypospadias;Patent ductus arteriosus after premature birthGRCh37 (hg19)NC_000006.116111349990111349990Submitted genomic
estd236essv26067113interchromosomal translocationMergingMergingNo1959Delayed speech and language development;Global developmental delay;Hypospadias;Patent ductus arteriosus after premature birthGRCh37 (hg19)NC_000007.137132591756132591756Submitted genomic
estd236essv26067113interchromosomal translocationMergingMergingNo1959Delayed speech and language development;Global developmental delay;Hypospadias;Patent ductus arteriosus after premature birthGRCh37 (hg19)NC_000006.116111349990111349990Submitted genomic
estd236essv26067113interchromosomal translocationMergingMergingNo1959Delayed speech and language development;Global developmental delay;Hypospadias;Patent ductus arteriosus after premature birthGRCh37 (hg19)NC_000007.137132591756132591756Submitted genomic
estd236essv26067114interchromosomal translocationMergingMergingNo1959Delayed speech and language development;Global developmental delay;Hypospadias;Patent ductus arteriosus after premature birthGRCh37 (hg19)NC_000006.1168468489484684894Submitted genomic
estd236essv26067114interchromosomal translocationMergingMergingNo1959Delayed speech and language development;Global developmental delay;Hypospadias;Patent ductus arteriosus after premature birthGRCh37 (hg19)NC_000006.1168468489484684894Submitted genomic
estd236essv26067115intrachromosomal translocationMergingMergingNo1959Delayed speech and language development;Global developmental delay;Hypospadias;Patent ductus arteriosus after premature birthGRCh37 (hg19)NC_000006.116123371910123371910Submitted genomic
estd236essv26067115intrachromosomal translocationMergingMergingNo1959Delayed speech and language development;Global developmental delay;Hypospadias;Patent ductus arteriosus after premature birthGRCh37 (hg19)NC_000006.11667939916793991Submitted genomic
estd236essv26067115intrachromosomal translocationMergingMergingNo1959Delayed speech and language development;Global developmental delay;Hypospadias;Patent ductus arteriosus after premature birthGRCh37 (hg19)NC_000006.116123371910123371910Submitted genomic
estd236essv26067115intrachromosomal translocationMergingMergingNo1959Delayed speech and language development;Global developmental delay;Hypospadias;Patent ductus arteriosus after premature birthGRCh37 (hg19)NC_000006.11667939916793991Submitted genomic
estd236essv26067116intrachromosomal translocationMergingMergingNo1960GRCh37 (hg19)NC_000006.116123371910123371910Submitted genomic
estd236essv26067116intrachromosomal translocationMergingMergingNo1960GRCh37 (hg19)NC_000006.11667939916793991Submitted genomic
estd236essv26067116intrachromosomal translocationMergingMergingNo1960GRCh37 (hg19)NC_000006.116123371910123371910Submitted genomic
estd236essv26067116intrachromosomal translocationMergingMergingNo1960GRCh37 (hg19)NC_000006.11667939916793991Submitted genomic
estd236essv26067116intrachromosomal translocationMergingMergingNo1960GRCh38.p12NC_000006.126123050765123050765Remapped1
estd236essv26067116intrachromosomal translocationMergingMergingNo1960GRCh38.p12NC_000006.12667937586793758Remapped1
estd236essv26067117intrachromosomal translocationMergingMergingNo256GRCh37 (hg19)NC_000014.8148542752085427520Submitted genomic
estd236essv26067117intrachromosomal translocationMergingMergingNo256GRCh37 (hg19)NC_000014.8148595377885953778Submitted genomic
estd236essv26067117intrachromosomal translocationMergingMergingNo256GRCh37 (hg19)NC_000014.8148542752085427520Submitted genomic
estd236essv26067117intrachromosomal translocationMergingMergingNo256GRCh37 (hg19)NC_000014.8148595377885953778Submitted genomic
estd236essv26067118intrachromosomal translocationMergingMergingNo1002GRCh37 (hg19)NC_000003.113143880433143880433Submitted genomic
estd236essv26067118intrachromosomal translocationMergingMergingNo1002GRCh37 (hg19)NC_000003.113174483795174483795Submitted genomic
estd236essv26067118intrachromosomal translocationMergingMergingNo1002GRCh37 (hg19)NC_000003.113143880433143880433Submitted genomic
estd236essv26067118intrachromosomal translocationMergingMergingNo1002GRCh37 (hg19)NC_000003.113174483795174483795Submitted genomic
estd236essv26067118intrachromosomal translocationMergingMergingNo1002GRCh38.p12NC_000003.123144161591144161591Remapped1
estd236essv26067118intrachromosomal translocationMergingMergingNo1002GRCh38.p12NC_000003.123174766005174766005Remapped1
estd236essv26067119intrachromosomal translocationMergingMergingNo286GRCh37 (hg19)NC_000006.116154434383154434383Submitted genomic
estd236essv26067119intrachromosomal translocationMergingMergingNo286GRCh37 (hg19)NC_000006.1164838524948385249Submitted genomic
estd236essv26067119intrachromosomal translocationMergingMergingNo286GRCh37 (hg19)NC_000006.116154434383154434383Submitted genomic
estd236essv26067119intrachromosomal translocationMergingMergingNo286GRCh37 (hg19)NC_000006.1164838524948385249Submitted genomic
estd236essv26067119intrachromosomal translocationMergingMergingNo286GRCh38.p12NC_000006.126154113248154113248Remapped1
estd236essv26067119intrachromosomal translocationMergingMergingNo286GRCh38.p12NC_000006.1264841751348417513Remapped1
estd236essv26067120intrachromosomal translocationMergingMergingNo1002GRCh37 (hg19)NC_000003.113133464557133464557Submitted genomic
estd236essv26067120intrachromosomal translocationMergingMergingNo1002GRCh37 (hg19)NC_000003.113169592488169592488Submitted genomic
estd236essv26067120intrachromosomal translocationMergingMergingNo1002GRCh37 (hg19)NC_000003.113133464557133464557Submitted genomic
estd236essv26067120intrachromosomal translocationMergingMergingNo1002GRCh37 (hg19)NC_000003.113169592488169592488Submitted genomic
estd236essv26067120intrachromosomal translocationMergingMergingNo1002GRCh38.p12NC_000003.123133745713133745713Remapped1
estd236essv26067120intrachromosomal translocationMergingMergingNo1002GRCh38.p12NC_000003.123169874700169874700Remapped1
estd236essv26067121copy number lossMergingMergingNo1002GRCh37 (hg19)NC_000008.1083271699532723878Submitted genomic
estd236essv26067121copy number lossMergingMergingNo1002GRCh37 (hg19)NC_000008.1083271699532723878Submitted genomic
estd236essv26067121copy number lossMergingMergingNo1002GRCh38.p12NC_000008.1183285947732866360Remapped1
estd236essv26067122copy number lossMergingMergingNo256GRCh37 (hg19)NC_000014.8148599158286933797Submitted genomic
estd236essv26067122copy number lossMergingMergingNo256GRCh37 (hg19)NC_000014.8148599158286933797Submitted genomic
estd236essv26067123interchromosomal translocationMergingMergingNo1960GRCh37 (hg19)NC_000006.116111343917111343917Submitted genomic
estd236essv26067123interchromosomal translocationMergingMergingNo1960GRCh37 (hg19)NC_000007.137132591776132591776Submitted genomic
estd236essv26067123interchromosomal translocationMergingMergingNo1960GRCh37 (hg19)NC_000006.116111343917111343917Submitted genomic
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