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Supporting Variant Placements for estd208
Study IDVariant IDVariant Region typeVariant Call typeSampleset IDMethodAnalysis IDValidationVariant samplesSubject phenotypeClinical InterpretationAssemblyAccessionChrOuter-StartStartInner-StartInner-EndEndOuter-EndPlacement TypeRemap Score
estd208essv7099924duplicationOligo aCGHProbe signal intensityNoNL1SeizureUncertain significanceGRCh38.p12NC_000009.129136126730136359675Remapped1.0807
estd208essv7099925duplicationSNP arraySNP genotyping analysisNoD34SeizurePathogenicGRCh38.p12NC_000023.11X2434284824824262Remapped1
estd208essv7099926duplicationSNP arraySNP genotyping analysisNoD34SeizureUncertain significanceGRCh38.p12NC_000014.9145687361757298377Remapped1
estd208essv7099927duplicationOligo aCGHProbe signal intensityNoNL10SeizureUncertain significanceGRCh37.p13NC_000002.1122879115228912290Remapped1
estd208essv7099927duplicationOligo aCGHProbe signal intensityNoNL10SeizureUncertain significanceGRCh37.p13NC_000002.1122879115228912290Remapped1
estd208essv7099927duplicationOligo aCGHProbe signal intensityNoNL10SeizureUncertain significanceGRCh38.p12NC_000002.1222856828528689424Remapped1.00001
estd208essv7099928duplicationOligo aCGHProbe signal intensityNoNL11SeizureLikely pathogenicGRCh38.p12NC_000021.9213519170836867060Remapped1
estd208essv7099929deletionOligo aCGHProbe signal intensityNoNL13SeizureLikely pathogenicGRCh37.p13NC_000003.11316034212613312Remapped1
estd208essv7099929deletionOligo aCGHProbe signal intensityNoNL13SeizureLikely pathogenicGRCh37.p13NC_000003.11316034212613312Remapped1
estd208essv7099929deletionOligo aCGHProbe signal intensityNoNL13SeizureLikely pathogenicGRCh38.p12NC_000003.12315617372571628Remapped1
estd208essv7099930duplicationOligo aCGHProbe signal intensityNoNL51SeizureUncertain significanceGRCh38.p12NC_000019.10195317787953429894Remapped1
estd208essv7099931deletionOligo aCGHProbe signal intensityNoNL14SeizurePathogenicGRCh38.p12NC_000005.1055859812259259665Remapped1
estd208essv7099932deletionSNP arraySNP genotyping analysisNoNL15SeizureUncertain significanceGRCh38.p12NC_000004.124114042321114480672Remapped1
estd208essv7099933duplicationOligo aCGHProbe signal intensityNoNL16SeizureUncertain significanceGRCh38.p12NC_000023.11X344691809564Remapped1
estd208essv7099934deletionOligo aCGHProbe signal intensityNoNL17SeizurePathogenicGRCh38.p12NC_000016.10161485050216212019Remapped1
estd208essv7099935duplicationOligo aCGHProbe signal intensityNoNL18SeizureUncertain significanceGRCh38.p12NC_000004.124156484740157349996Remapped1
estd208essv7099936deletionOligo aCGHProbe signal intensityNoNL2SeizureLikely pathogenicGRCh38.p12NC_000014.9142051170722614561Remapped0.99965
estd208essv7099937deletionOligo aCGHProbe signal intensityNoNL19SeizurePathogenicGRCh38.p12NC_000022.11221833913021151268Remapped2.45805
estd208essv7099938duplicationOligo aCGHProbe signal intensityNoNL20SeizureLikely pathogenicGRCh38.p12NC_000004.124180774102182609781Remapped1
estd208essv7099939duplicationOligo aCGHProbe signal intensityNoNL21SeizureUncertain significanceGRCh38.p12NC_000011.10111512070115422548Remapped1
estd208essv7099940duplicationOligo aCGHProbe signal intensityNoNL22SeizureUncertain significanceGRCh38.p12NC_000011.10111512070115422548Remapped1
estd208essv7099941duplicationOligo aCGHProbe signal intensityNoNL23SeizureUncertain significanceGRCh37.p13NC_000002.112136261798136394456Remapped1
estd208essv7099941duplicationOligo aCGHProbe signal intensityNoNL23SeizureUncertain significanceGRCh37.p13NC_000002.112136261798136394456Remapped1
estd208essv7099941duplicationOligo aCGHProbe signal intensityNoNL23SeizureUncertain significanceGRCh38.p12NC_000002.122135504228135636886Remapped1
estd208essv7099942deletionSNP arraySNP genotyping analysisNoNL24SeizureUncertain significanceGRCh38.p12NC_000003.1239926095799399555Remapped1
estd208essv7099943deletionOligo aCGHProbe signal intensityNoNL25SeizureUncertain significanceGRCh37.p13NC_000002.1125108341051426171Remapped1
estd208essv7099943deletionOligo aCGHProbe signal intensityNoNL25SeizureUncertain significanceGRCh37.p13NC_000002.1125108341051426171Remapped1
estd208essv7099943deletionOligo aCGHProbe signal intensityNoNL25SeizureUncertain significanceGRCh38.p12NC_000002.1225085627251199033Remapped1
estd208essv7099944duplicationOligo aCGHProbe signal intensityNoNL26SeizureUncertain significanceGRCh38.p12NC_000005.1054378544644341529Remapped1
estd208essv7099945duplicationOligo aCGHProbe signal intensityNoNL37SeizureUncertain significanceGRCh38.p12NC_000005.105142612227143070391Remapped0.99998
estd208essv7099946duplicationOligo aCGHProbe signal intensityNoNL37SeizureUncertain significanceGRCh38.p12NC_000016.10167698065477624288Remapped1
estd208essv7099947deletionOligo aCGHProbe signal intensityNoNL3SeizurePathogenicGRCh38.p12NC_000015.10152881887930073661Remapped0.97263
estd208essv7099948duplicationOligo aCGHProbe signal intensityNoNL27SeizureUncertain significanceGRCh38.p12NC_000023.11X7630491177116778Remapped0.99999
estd208essv7099949duplicationOligo aCGHProbe signal intensityNoNL28SeizureUncertain significanceGRCh38.p12NC_000023.11X6430392265014534Remapped1
estd208essv7099950duplicationSNP arraySNP genotyping analysisNoNL29SeizureUncertain significanceGRCh38.p12NC_000012.1212131487495131607359Remapped1
estd208essv7099951deletionOligo aCGHProbe signal intensityNoNL31SeizurePathogenicGRCh38.p12NC_000017.11171069924610804673Remapped1
estd208essv7099952deletionOligo aCGHProbe signal intensityNoNL32SeizurePathogenicGRCh37.p13NC_000002.112155646724159344753Remapped1
estd208essv7099952deletionOligo aCGHProbe signal intensityNoNL32SeizurePathogenicGRCh37.p13NC_000002.112155646724159344753Remapped1
estd208essv7099952deletionOligo aCGHProbe signal intensityNoNL32SeizurePathogenicGRCh38.p12NC_000002.122154790212158488241Remapped1
estd208essv7099953deletionOligo aCGHProbe signal intensityNoNL33SeizureLikely pathogenicGRCh38.p12NC_000018.1018917703111677502Remapped1
estd208essv7099954deletionOligo aCGHProbe signal intensityNoNL58SeizureUncertain significanceGRCh38.p12NC_000022.11221833913021358922Remapped1.08894
estd208essv7099955deletionOligo aCGHProbe signal intensityNoNL35SeizureUncertain significanceGRCh38.p12NC_000016.10168280773082916808Remapped1
estd208essv7099956duplicationOligo aCGHProbe signal intensityNoNL36SeizureUncertain significanceGRCh38.p12NC_000020.11203697879637185242Remapped1
estd208essv7099957deletionOligo aCGHProbe signal intensityNoNL37SeizurePathogenicGRCh38.p12NC_000006.12627331363153899Remapped1
estd208essv7099958deletionOligo aCGHProbe signal intensityNoNL7SeizurePathogenicGRCh38.p12NC_000015.10153089144432218802Remapped1
estd208essv7099959deletionSNP arraySNP genotyping analysisNoD34SeizurePathogenicGRCh38.p12NC_000023.11X10891886838Remapped1.14252
estd208essv7099960duplicationOligo aCGHProbe signal intensityNoNL58SeizureUncertain significanceGRCh38.p12NC_000023.11X153854952155699759Remapped1.01979
estd208essv7099961deletionOligo aCGHProbe signal intensityNoNL38SeizureLikely pathogenicGRCh38.p12NC_000024.10Y46697336597658Remapped1
estd208essv7099962duplicationOligo aCGHProbe signal intensityNoNL39SeizureLikely pathogenicGRCh38.p12NC_000023.11X65537758163910Remapped1
estd208essv7099963duplicationOligo aCGHProbe signal intensityNoNL40SeizureLikely pathogenicGRCh38.p12NC_000003.1235923790461741180Remapped1.00002
estd208essv7099964deletionOligo aCGHProbe signal intensityNoNL10SeizureUncertain significanceGRCh38.p12NC_000016.10162193985822437052Remapped1
estd208essv7099965deletionOligo aCGHProbe signal intensityNoNL41SeizureUncertain significanceGRCh38.p12NC_000023.11X3177372631902913Remapped1
estd208essv7099966duplicationOligo aCGHProbe signal intensityNoNL42SeizureUncertain significanceGRCh38.p12NC_000007.1475514220655289773Remapped1
estd208essv7099967duplicationOligo aCGHProbe signal intensityNoNL43SeizurePathogenicGRCh37.p13NC_000001.101145401238145799743Remapped1
estd208essv7099967duplicationOligo aCGHProbe signal intensityNoNL43SeizurePathogenicGRCh37.p13NC_000001.101145401238145799743Remapped1
estd208essv7099967duplicationOligo aCGHProbe signal intensityNoNL43SeizurePathogenicGRCh38.p12NC_000001.111145635306146033762Remapped0.99988
estd208essv7099968duplicationOligo aCGHProbe signal intensityNoNL44SeizureUncertain significanceGRCh38.p12NC_000023.11X57001995964019Remapped1
estd208essv7099969deletionOligo aCGHProbe signal intensityNoNL4SeizurePathogenicGRCh38.p12NC_000017.11171669961520390865Remapped1.00004
estd208essv7099970duplicationOligo aCGHProbe signal intensityNoNL45SeizureUncertain significanceGRCh37.p13NC_000002.112172781830172952526Remapped1
estd208essv7099970duplicationOligo aCGHProbe signal intensityNoNL45SeizureUncertain significanceGRCh37.p13NC_000002.112172781830172952526Remapped1
estd208essv7099970duplicationOligo aCGHProbe signal intensityNoNL45SeizureUncertain significanceGRCh38.p12NC_000002.122171925320172087798Remapped0.95186
estd208essv7099971duplicationOligo aCGHProbe signal intensityNoNL46SeizureUncertain significanceGRCh38.p12NC_000004.1248916430590001281Remapped1
estd208essv7099972duplicationOligo aCGHProbe signal intensityNoNL25SeizureUncertain significanceGRCh38.p12NC_000004.1249322050493528955Remapped1
estd208essv7099973deletionOligo aCGHProbe signal intensityNoNL47SeizureUncertain significanceGRCh38.p12NC_000008.1188138027781499385Remapped1
estd208essv7099974deletionOligo aCGHProbe signal intensityNoNL49SeizureUncertain significanceGRCh38.p12NC_000005.105116050964116154849Remapped1
estd208essv7099975duplicationOligo aCGHProbe signal intensityNoNL27SeizureUncertain significanceGRCh38.p12NC_000023.11X108635237108758151Remapped1
estd208essv7099976duplicationOligo aCGHProbe signal intensityNoNL27SeizureUncertain significanceGRCh38.p12NC_000011.10115671447956882648Remapped1
estd208essv7099977duplicationOligo aCGHProbe signal intensityNoNL51SeizureLikely pathogenicGRCh38.p12NC_000005.1051379351814172189Remapped1
estd208essv7099978duplicationOligo aCGHProbe signal intensityNoNL58SeizureUncertain significanceGRCh38.p12NC_000023.11X3031241149485Remapped0.83811
estd208essv7099979deletionOligo aCGHProbe signal intensityNoNL52SeizureUncertain significanceGRCh38.p12NC_000008.118142508302142611257Remapped1
estd208essv7099980deletionOligo aCGHProbe signal intensityNoNL5SeizurePathogenicGRCh38.p12NC_000016.10162960916730187431Remapped1
estd208essv7099981duplicationOligo aCGHProbe signal intensityNoNL35SeizureUncertain significanceGRCh38.p12NC_000020.112097779549900697Remapped1
estd208essv7099982duplicationOligo aCGHProbe signal intensityNoNL53SeizureUncertain significanceGRCh37.p13NC_000001.101153613393153725007Remapped1
estd208essv7099982duplicationOligo aCGHProbe signal intensityNoNL53SeizureUncertain significanceGRCh37.p13NC_000001.101153613393153725007Remapped1
estd208essv7099982duplicationOligo aCGHProbe signal intensityNoNL53SeizureUncertain significanceGRCh38.p12NC_000001.111153640917153752531Remapped1
estd208essv7099983duplicationOligo aCGHProbe signal intensityNoNL54SeizureUncertain significanceGRCh38.p12NC_000007.147158732788158972617Remapped1
estd208essv7099984duplicationOligo aCGHProbe signal intensityNoNL58SeizureLikely pathogenicGRCh38.p12NC_000005.105177064720177456417Remapped1
estd208essv7099985deletionOligo aCGHProbe signal intensityNoNL42SeizureUncertain significanceGRCh38.p12NC_000017.111794322049626319Remapped1
estd208essv7099986deletionOligo aCGHProbe signal intensityNoNL59SeizurePathogenicGRCh38.p12NC_000015.10152037019322308242Remapped0.96113
estd208essv7099987duplicationSNP arraySNP genotyping analysisNoNL60SeizureUncertain significanceGRCh38.p12NC_000002.122187818872188212126Remapped1
estd208essv7099988deletionOligo aCGHProbe signal intensityNoNL62SeizurePathogenicGRCh38.p12NC_000015.10152257265823174746Remapped0.99983
estd208essv7099989deletionOligo aCGHProbe signal intensityNoNL45SeizureUncertain significanceGRCh38.p12NC_000020.11206333146463555635Remapped1
estd208essv7099990duplicationOligo aCGHProbe signal intensityNoNL63SeizureUncertain significanceGRCh38.p12NC_000004.124128864328128984101Remapped1
estd208essv7099991duplicationOligo aCGHProbe signal intensityNoNL6SeizureLikely pathogenicGRCh38.p12NC_000019.10192157478422830341Remapped1
estd208essv7099992duplicationOligo aCGHProbe signal intensityNoNL64SeizurePathogenicGRCh38.p12NC_000016.10161595105716217354Remapped1
estd208essv7099993duplicationOligo aCGHProbe signal intensityNoNL66SeizureUncertain significanceGRCh38.p12NC_000009.12919989112119702Remapped1
estd208essv7099994duplicationOligo aCGHProbe signal intensityNoNL67SeizureUncertain significanceGRCh38.p12NC_000023.11X153250227153579700Remapped0.76572
estd208essv7099995deletionOligo aCGHProbe signal intensityNoNL68SeizurePathogenicGRCh38.p12NC_000016.10162964516330188186Remapped1
estd208essv7099996deletionOligo aCGHProbe signal intensityNoNL70SeizureUncertain significanceGRCh38.p12NC_000004.12472355688150Remapped1.01001
estd208essv7099997duplicationOligo aCGHProbe signal intensityNoNL72SeizureUncertain significanceGRCh38.p12NC_000022.11223208173132371838Remapped1
estd208essv7099998deletionOligo aCGHProbe signal intensityNoNL74SeizurePathogenicGRCh38.p12NC_000013.11133546411235567087Remapped1
estd208essv7099999duplicationSNP arraySNP genotyping analysisNoK1SeizureUncertain significanceGRCh37.p13NC_000001.1014620236146347367Remapped1
estd208essv7099999duplicationSNP arraySNP genotyping analysisNoK1SeizureUncertain significanceGRCh37.p13NC_000001.1014620236146347367Remapped1
estd208essv7099999duplicationSNP arraySNP genotyping analysisNoK1SeizureUncertain significanceGRCh38.p12NC_000001.1114573668945881695Remapped1
estd208essv7100000deletionSNP arraySNP genotyping analysisNoK12SeizureUncertain significanceGRCh38.p12NC_000014.9143116990431530828Remapped1
estd208essv7100001duplicationSNP arraySNP genotyping analysisNoK13SeizureUncertain significanceGRCh38.p12NC_000012.1212101802589101904983Remapped1
estd208essv7100002duplicationOligo aCGHProbe signal intensityNoNL7SeizureLikely pathogenicGRCh38.p12NC_000019.10192157478422830341Remapped1
estd208essv7100003deletionSNP arraySNP genotyping analysisNoK22SeizureUncertain significanceGRCh37.p13NC_000002.112183300759183545378Remapped1
estd208essv7100003deletionSNP arraySNP genotyping analysisNoK22SeizureUncertain significanceGRCh37.p13NC_000002.112183300759183545378Remapped1
estd208essv7100003deletionSNP arraySNP genotyping analysisNoK22SeizureUncertain significanceGRCh38.p12NC_000002.122182436032182680651Remapped1
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