esv2829853
- Organism: Homo sapiens
- Study:estd206 (Nagirnaja et al. 2014)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:6
- Validation:Not tested
- Clinical Assertions: No
- Region Size:28,054
- Description:FREQ_IN_CASES=6/43
- Publication(s):Nagirnaja et al. 2014
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 2173 SVs from 98 studies. See in: genome view
Overlapping variant regions from other studies: 1538 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 2173 SVs from 98 studies. See in: genome view
Overlapping variant regions from other studies: 1539 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 980 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 1478 SVs from 30 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
esv2829853 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 31,308,833 | 31,336,886 |
esv2829853 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_7 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 2,611,057 | 2,639,084 |
esv2829853 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 31,276,610 | 31,304,663 |
esv2829853 | Remapped | Good | GRCh37.p13 | ALT_REF_LOCI_7 | Second Pass | NT_167249.1 | Chr6|NT_16 7249.1 | 2,610,355 | 2,638,382 |
esv2829853 | Remapped | Good | GRCh37.p13 | ALT_REF_LOCI_4 | Second Pass | NT_167246.1 | Chr6|NT_16 7246.1 | 2,623,436 | 2,651,073 |
esv2829853 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 31,384,589 | 31,412,642 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Copy number |
---|---|---|---|---|---|
essv7099111 | copy number loss | SNP array | Probe signal intensity | Recurrent miscarriage | 1 |
essv7099110 | copy number loss | SNP array | Probe signal intensity | Recurrent miscarriage | 1 |
essv7099112 | copy number loss | SNP array | Probe signal intensity | Recurrent miscarriage | 1 |
essv7099113 | copy number loss | SNP array | Probe signal intensity | Recurrent miscarriage | 1 |
essv7099116 | copy number loss | SNP array | Probe signal intensity | Recurrent miscarriage | 0 |
essv7099117 | copy number loss | SNP array | Probe signal intensity | Recurrent miscarriage | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
essv7099111 | Remapped | Good | NT_167249.2:g.(?_2 611057)_(2620794_? )del | GRCh38.p12 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 2,611,057 | 2,620,794 |
essv7099110 | Remapped | Good | NT_167249.2:g.(?_2 611057)_(2622909_? )del | GRCh38.p12 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 2,611,057 | 2,622,909 |
essv7099112 | Remapped | Good | NT_167249.2:g.(?_2 612180)_(2639084_? )del | GRCh38.p12 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 2,612,180 | 2,639,084 |
essv7099113 | Remapped | Good | NT_167249.2:g.(?_2 614513)_(2622909_? )del | GRCh38.p12 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 2,614,513 | 2,622,909 |
essv7099116 | Remapped | Good | NT_167249.2:g.(?_2 614513)_(2627002_? )del | GRCh38.p12 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 2,614,513 | 2,627,002 |
essv7099110 | Remapped | Pass | NT_167246.2:g.(?_2 617816)_(2625775_? )del | GRCh38.p12 | Second Pass | NT_167246.2 | Chr6|NT_16 7246.2 | 2,617,816 | 2,625,775 |
essv7099111 | Remapped | Pass | NT_167246.2:g.(?_2 617816)_(2625775_? )del | GRCh38.p12 | Second Pass | NT_167246.2 | Chr6|NT_16 7246.2 | 2,617,816 | 2,625,775 |
essv7099117 | Remapped | Good | NT_167249.2:g.(?_2 620660)_(2629106_? )del | GRCh38.p12 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 2,620,660 | 2,629,106 |
essv7099113 | Remapped | Pass | NT_167246.2:g.(?_2 621300)_(2625775_? )del | GRCh38.p12 | Second Pass | NT_167246.2 | Chr6|NT_16 7246.2 | 2,621,300 | 2,625,775 |
essv7099111 | Remapped | Perfect | NC_000006.12:g.(?_ 31308833)_(3131860 4_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,308,833 | 31,318,604 |
essv7099110 | Remapped | Perfect | NC_000006.12:g.(?_ 31308833)_(3132071 6_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,308,833 | 31,320,716 |
essv7099112 | Remapped | Perfect | NC_000006.12:g.(?_ 31309963)_(3133688 6_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,309,963 | 31,336,886 |
essv7099113 | Remapped | Perfect | NC_000006.12:g.(?_ 31312324)_(3132071 6_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,312,324 | 31,320,716 |
essv7099116 | Remapped | Perfect | NC_000006.12:g.(?_ 31312324)_(3132480 5_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,312,324 | 31,324,805 |
essv7099117 | Remapped | Perfect | NC_000006.12:g.(?_ 31318470)_(3132691 0_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,318,470 | 31,326,910 |
essv7099111 | Remapped | Good | NT_167249.1:g.(?_2 610355)_(2620092_? )del | GRCh37.p13 | Second Pass | NT_167249.1 | Chr6|NT_16 7249.1 | 2,610,355 | 2,620,092 |
essv7099110 | Remapped | Good | NT_167249.1:g.(?_2 610355)_(2622207_? )del | GRCh37.p13 | Second Pass | NT_167249.1 | Chr6|NT_16 7249.1 | 2,610,355 | 2,622,207 |
essv7099112 | Remapped | Good | NT_167249.1:g.(?_2 611478)_(2638382_? )del | GRCh37.p13 | Second Pass | NT_167249.1 | Chr6|NT_16 7249.1 | 2,611,478 | 2,638,382 |
essv7099113 | Remapped | Good | NT_167249.1:g.(?_2 613811)_(2622207_? )del | GRCh37.p13 | Second Pass | NT_167249.1 | Chr6|NT_16 7249.1 | 2,613,811 | 2,622,207 |
essv7099116 | Remapped | Good | NT_167249.1:g.(?_2 613811)_(2626300_? )del | GRCh37.p13 | Second Pass | NT_167249.1 | Chr6|NT_16 7249.1 | 2,613,811 | 2,626,300 |
essv7099117 | Remapped | Good | NT_167249.1:g.(?_2 619958)_(2628404_? )del | GRCh37.p13 | Second Pass | NT_167249.1 | Chr6|NT_16 7249.1 | 2,619,958 | 2,628,404 |
essv7099110 | Remapped | Pass | NT_167246.1:g.(?_2 623436)_(2631393_? )delNT_167246.1:g. (?_2623436)_(26313 93_?)del | GRCh37.p13 | Second Pass | NT_167246.1 | Chr6|NT_16 7246.1 | 2,623,436 | 2,631,393 |
essv7099111 | Remapped | Pass | NT_167246.1:g.(?_2 623436)_(2631393_? )delNT_167246.1:g. (?_2623436)_(26313 93_?)del | GRCh37.p13 | Second Pass | NT_167246.1 | Chr6|NT_16 7246.1 | 2,623,436 | 2,631,393 |
essv7099112 | Remapped | Good | NT_167246.1:g.(?_2 624566)_(2651073_? )delNT_167246.1:g. (?_2624566)_(26510 73_?)del | GRCh37.p13 | Second Pass | NT_167246.1 | Chr6|NT_16 7246.1 | 2,624,566 | 2,651,073 |
essv7099113 | Remapped | Pass | NT_167246.1:g.(?_2 626920)_(2631393_? )delNT_167246.1:g. (?_2626920)_(26313 93_?)del | GRCh37.p13 | Second Pass | NT_167246.1 | Chr6|NT_16 7246.1 | 2,626,920 | 2,631,393 |
essv7099111 | Remapped | Perfect | NC_000006.11:g.(?_ 31276610)_(3128638 1_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 31,276,610 | 31,286,381 |
essv7099110 | Remapped | Perfect | NC_000006.11:g.(?_ 31276610)_(3128849 3_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 31,276,610 | 31,288,493 |
essv7099112 | Remapped | Perfect | NC_000006.11:g.(?_ 31277740)_(3130466 3_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 31,277,740 | 31,304,663 |
essv7099113 | Remapped | Perfect | NC_000006.11:g.(?_ 31280101)_(3128849 3_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 31,280,101 | 31,288,493 |
essv7099116 | Remapped | Perfect | NC_000006.11:g.(?_ 31280101)_(3129258 2_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 31,280,101 | 31,292,582 |
essv7099117 | Remapped | Perfect | NC_000006.11:g.(?_ 31286247)_(3129468 7_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 31,286,247 | 31,294,687 |
essv7099111 | Submitted genomic | NC_000006.10:g.(?_ 31384589)_(3139436 0_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 31,384,589 | 31,394,360 | ||
essv7099110 | Submitted genomic | NC_000006.10:g.(?_ 31384589)_(3139647 2_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 31,384,589 | 31,396,472 | ||
essv7099112 | Submitted genomic | NC_000006.10:g.(?_ 31385719)_(3141264 2_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 31,385,719 | 31,412,642 | ||
essv7099113 | Submitted genomic | NC_000006.10:g.(?_ 31388080)_(3139647 2_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 31,388,080 | 31,396,472 | ||
essv7099116 | Submitted genomic | NC_000006.10:g.(?_ 31388080)_(3140056 1_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 31,388,080 | 31,400,561 | ||
essv7099117 | Submitted genomic | NC_000006.10:g.(?_ 31394226)_(3140266 6_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 31,394,226 | 31,402,666 |