estd210 | essv26058942 | | interchromosomal translocation | | Sequencing | Split read and paired-end mapping | Yes | 10001047_1_1 | | | GRCh37 (hg19) | NC_000002.11 | 2 | | 8181790 | | | 8181790 | | Submitted genomic | |
estd210 | essv26058942 | | interchromosomal translocation | | Sequencing | Split read and paired-end mapping | Yes | 10001047_1_1 | | | GRCh37 (hg19) | NC_000007.13 | 7 | | 135245984 | | | 135245984 | | Submitted genomic | |
estd210 | essv26058942 | | interchromosomal translocation | | Sequencing | Split read and paired-end mapping | Yes | 10001047_1_1 | | | GRCh37 (hg19) | NC_000002.11 | 2 | | 8181790 | | | 8181790 | | Submitted genomic | |
estd210 | essv26058942 | | interchromosomal translocation | | Sequencing | Split read and paired-end mapping | Yes | 10001047_1_1 | | | GRCh37 (hg19) | NC_000007.13 | 7 | | 135245984 | | | 135245984 | | Submitted genomic | |
estd210 | essv26058942 | | interchromosomal translocation | | Sequencing | Split read and paired-end mapping | Yes | 10001047_1_1 | | | GRCh38.p12 | NC_000002.12 | 2 | | 8041660 | | | 8041660 | | Remapped | 1 |
estd210 | essv26058942 | | interchromosomal translocation | | Sequencing | Split read and paired-end mapping | Yes | 10001047_1_1 | | | GRCh38.p12 | NC_000007.14 | 7 | | 135561236 | | | 135561236 | | Remapped | 1 |
estd210 | essv26058943 | | inversion | | Sequencing | Split read and paired-end mapping | Yes | 10001047_1_1 | | | GRCh37 (hg19) | NC_000002.11 | 2 | | 22350265 | | | 162196595 | | Submitted genomic | |
estd210 | essv26058943 | | inversion | | Sequencing | Split read and paired-end mapping | Yes | 10001047_1_1 | | | GRCh37 (hg19) | NC_000002.11 | 2 | | 22350265 | | | 162196595 | | Submitted genomic | |
estd210 | essv26058943 | | inversion | | Sequencing | Split read and paired-end mapping | Yes | 10001047_1_1 | | | GRCh38.p12 | NC_000002.12 | 2 | | 22127393 | | | 161340084 | | Remapped | 0.99547 |
estd210 | essv26058944 | | inversion | | Sequencing | Split read and paired-end mapping | Yes | 10001047_1_1 | mental retardation, neurodevelopmental disorder | | GRCh37 (hg19) | NC_000002.11 | 2 | | 185679985 | | | 188161779 | | Submitted genomic | |
estd210 | essv26058944 | | inversion | | Sequencing | Split read and paired-end mapping | Yes | 10001047_1_1 | mental retardation, neurodevelopmental disorder | | GRCh37 (hg19) | NC_000002.11 | 2 | | 185679985 | | | 188161779 | | Submitted genomic | |
estd210 | essv26058944 | | inversion | | Sequencing | Split read and paired-end mapping | Yes | 10001047_1_1 | mental retardation, neurodevelopmental disorder | | GRCh38.p12 | NC_000002.12 | 2 | | 184815258 | | | 187297052 | | Remapped | 1 |
estd210 | essv26058945 | | deletion | | Sequencing | Split read and paired-end mapping | No | 10001047_1_1 | | | GRCh37 (hg19) | NC_000019.9 | 19 | | 54800252 | | | 54809071 | | Submitted genomic | |
estd210 | essv26058945 | | deletion | | Sequencing | Split read and paired-end mapping | No | 10001047_1_1 | | | GRCh37 (hg19) | NC_000019.9 | 19 | | 54800252 | | | 54809071 | | Submitted genomic | |
estd210 | essv26058945 | | deletion | | Sequencing | Split read and paired-end mapping | No | 10001047_1_1 | | | GRCh38.p12 | NT_187693.1 | 19|NT_187693.1 | | 271366 | | | 280185 | | Remapped | 1 |
estd210 | essv26058945 | | deletion | | Sequencing | Split read and paired-end mapping | No | 10001047_1_1 | | | GRCh38.p12 | NW_003571054.1 | 19|NW_003571054.1 | | 271137 | | | 279956 | | Remapped | 1 |
estd210 | essv26058945 | | deletion | | Sequencing | Split read and paired-end mapping | No | 10001047_1_1 | | | GRCh38.p12 | NW_003571055.2 | 19|NW_003571055.2 | | 271018 | | | 279838 | | Remapped | 1.00011 |
estd210 | essv26058945 | | deletion | | Sequencing | Split read and paired-end mapping | No | 10001047_1_1 | | | GRCh38.p12 | NW_003571061.2 | 19|NW_003571061.2 | | 271393 | | | 280212 | | Remapped | 1 |
estd210 | esv4002915 | inversion | | | | | Yes | | | | GRCh37 (hg19) | NC_000002.11 | 2 | | 22350265 | | | 162196595 | | Submitted genomic | |
estd210 | esv4002915 | inversion | | | | | Yes | | | | GRCh37 (hg19) | NC_000002.11 | 2 | | 22350265 | | | 162196595 | | Submitted genomic | |
estd210 | esv4002915 | inversion | | | | | Yes | | | | GRCh38.p12 | NC_000002.12 | 2 | | 22127393 | | | 161340084 | | Remapped | 0.99547 |
estd210 | esv4002916 | inversion | | | | | Yes | | | | GRCh37 (hg19) | NC_000002.11 | 2 | | 185679985 | | | 188161779 | | Submitted genomic | |
estd210 | esv4002916 | inversion | | | | | Yes | | | | GRCh37 (hg19) | NC_000002.11 | 2 | | 185679985 | | | 188161779 | | Submitted genomic | |
estd210 | esv4002916 | inversion | | | | | Yes | | | | GRCh38.p12 | NC_000002.12 | 2 | | 184815258 | | | 187297052 | | Remapped | 1 |
estd210 | esv4002917 | copy number variation | | | | | No | | | | GRCh37 (hg19) | NC_000019.9 | 19 | | 54800252 | | | 54809071 | | Submitted genomic | |
estd210 | esv4002917 | copy number variation | | | | | No | | | | GRCh37 (hg19) | NC_000019.9 | 19 | | 54800252 | | | 54809071 | | Submitted genomic | |
estd210 | esv4002917 | copy number variation | | | | | No | | | | GRCh38.p12 | NT_187693.1 | 19|NT_187693.1 | | 271366 | | | 280185 | | Remapped | 1 |
estd210 | esv4002917 | copy number variation | | | | | No | | | | GRCh38.p12 | NW_003571054.1 | 19|NW_003571054.1 | | 271137 | | | 279956 | | Remapped | 1 |
estd210 | esv4002917 | copy number variation | | | | | No | | | | GRCh38.p12 | NW_003571055.2 | 19|NW_003571055.2 | | 271018 | | | 279838 | | Remapped | 1.00011 |
estd210 | esv4002917 | copy number variation | | | | | No | | | | GRCh38.p12 | NW_003571061.2 | 19|NW_003571061.2 | | 271393 | | | 280212 | | Remapped | 1 |
estd210 | esv4002935 | translocation | | | | | Yes | | | | GRCh37 (hg19) | NC_000002.11 | 2 | | 8181790 | | | 8181790 | | Submitted genomic | |
estd210 | esv4002935 | translocation | | | | | Yes | | | | GRCh37 (hg19) | NC_000007.13 | 7 | | 135245984 | | | 135245984 | | Submitted genomic | |
estd210 | esv4002935 | translocation | | | | | Yes | | | | GRCh37 (hg19) | NC_000002.11 | 2 | | 8181790 | | | 8181790 | | Submitted genomic | |
estd210 | esv4002935 | translocation | | | | | Yes | | | | GRCh37 (hg19) | NC_000007.13 | 7 | | 135245984 | | | 135245984 | | Submitted genomic | |
estd210 | esv4002935 | translocation | | | | | Yes | | | | GRCh38.p12 | NC_000002.12 | 2 | | 8041660 | | | 8041660 | | Remapped | 1 |
estd210 | esv4002935 | translocation | | | | | Yes | | | | GRCh38.p12 | NC_000007.14 | 7 | | 135561236 | | | 135561236 | | Remapped | 1 |