esv2764216
- Organism: Homo sapiens
- Study:estd203 (Vogler et al. 2010)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:16
- Validation:Not tested
- Clinical Assertions: No
- Region Size:10,548
- Publication(s):Vogler et al. 2010
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: 174 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 38 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 180 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 39 SVs from 15 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2764216 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 210,431,402 | 210,441,949 |
| esv2764216 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_011332687.1 | Chr1|NW_01 1332687.1 | 211,144 | 221,691 |
| esv2764216 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 210,604,746 | 210,615,293 |
| esv2764216 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 208,671,369 | 208,681,916 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7006954 | copy number loss | RW_0058 | SNP array | SNP genotyping analysis | 45 |
| essv7006956 | copy number loss | RW_0060 | SNP array | SNP genotyping analysis | 51 |
| essv7006957 | copy number loss | RW_0072 | SNP array | SNP genotyping analysis | 32 |
| essv7006958 | copy number loss | RW_0075 | SNP array | SNP genotyping analysis | 36 |
| essv7006959 | copy number loss | RW_0114 | SNP array | SNP genotyping analysis | 36 |
| essv7006960 | copy number loss | RW_0185 | SNP array | SNP genotyping analysis | 50 |
| essv7006961 | copy number loss | RW_0186 | SNP array | SNP genotyping analysis | 74 |
| essv7006962 | copy number loss | RW_0196 | SNP array | SNP genotyping analysis | 67 |
| essv7006963 | copy number loss | RW_0266 | SNP array | SNP genotyping analysis | 56 |
| essv7006964 | copy number loss | RW_0331 | SNP array | SNP genotyping analysis | 47 |
| essv7006965 | copy number loss | RW_0341 | SNP array | SNP genotyping analysis | 39 |
| essv7006968 | copy number loss | RW_0504 | SNP array | SNP genotyping analysis | 34 |
| essv7006969 | copy number loss | RW_0619 | SNP array | SNP genotyping analysis | 37 |
| essv7006970 | copy number loss | RW_0656 | SNP array | SNP genotyping analysis | 34 |
| essv7006971 | copy number loss | RW_0258 | SNP array | SNP genotyping analysis | 70 |
| essv7006972 | copy number loss | RW_0540 | SNP array | SNP genotyping analysis | 47 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv7006954 | Remapped | Perfect | NW_011332687.1:g.( ?_211144)_(218926_ ?)del | GRCh38.p12 | Second Pass | NW_011332687.1 | Chr1|NW_01 1332687.1 | 211,144 | 218,926 |
| essv7006956 | Remapped | Perfect | NW_011332687.1:g.( ?_211144)_(218926_ ?)del | GRCh38.p12 | Second Pass | NW_011332687.1 | Chr1|NW_01 1332687.1 | 211,144 | 218,926 |
| essv7006957 | Remapped | Perfect | NW_011332687.1:g.( ?_211144)_(218926_ ?)del | GRCh38.p12 | Second Pass | NW_011332687.1 | Chr1|NW_01 1332687.1 | 211,144 | 218,926 |
| essv7006958 | Remapped | Perfect | NW_011332687.1:g.( ?_211144)_(218926_ ?)del | GRCh38.p12 | Second Pass | NW_011332687.1 | Chr1|NW_01 1332687.1 | 211,144 | 218,926 |
| essv7006959 | Remapped | Perfect | NW_011332687.1:g.( ?_211144)_(218926_ ?)del | GRCh38.p12 | Second Pass | NW_011332687.1 | Chr1|NW_01 1332687.1 | 211,144 | 218,926 |
| essv7006960 | Remapped | Perfect | NW_011332687.1:g.( ?_211144)_(218926_ ?)del | GRCh38.p12 | Second Pass | NW_011332687.1 | Chr1|NW_01 1332687.1 | 211,144 | 218,926 |
| essv7006961 | Remapped | Perfect | NW_011332687.1:g.( ?_211144)_(218926_ ?)del | GRCh38.p12 | Second Pass | NW_011332687.1 | Chr1|NW_01 1332687.1 | 211,144 | 218,926 |
| essv7006962 | Remapped | Perfect | NW_011332687.1:g.( ?_211144)_(218926_ ?)del | GRCh38.p12 | Second Pass | NW_011332687.1 | Chr1|NW_01 1332687.1 | 211,144 | 218,926 |
| essv7006963 | Remapped | Perfect | NW_011332687.1:g.( ?_211144)_(218926_ ?)del | GRCh38.p12 | Second Pass | NW_011332687.1 | Chr1|NW_01 1332687.1 | 211,144 | 218,926 |
| essv7006964 | Remapped | Perfect | NW_011332687.1:g.( ?_211144)_(218926_ ?)del | GRCh38.p12 | Second Pass | NW_011332687.1 | Chr1|NW_01 1332687.1 | 211,144 | 218,926 |
| essv7006965 | Remapped | Perfect | NW_011332687.1:g.( ?_211144)_(218926_ ?)del | GRCh38.p12 | Second Pass | NW_011332687.1 | Chr1|NW_01 1332687.1 | 211,144 | 218,926 |
| essv7006968 | Remapped | Perfect | NW_011332687.1:g.( ?_211144)_(218926_ ?)del | GRCh38.p12 | Second Pass | NW_011332687.1 | Chr1|NW_01 1332687.1 | 211,144 | 218,926 |
| essv7006969 | Remapped | Perfect | NW_011332687.1:g.( ?_211144)_(218926_ ?)del | GRCh38.p12 | Second Pass | NW_011332687.1 | Chr1|NW_01 1332687.1 | 211,144 | 218,926 |
| essv7006970 | Remapped | Perfect | NW_011332687.1:g.( ?_211144)_(218926_ ?)del | GRCh38.p12 | Second Pass | NW_011332687.1 | Chr1|NW_01 1332687.1 | 211,144 | 218,926 |
| essv7006971 | Remapped | Perfect | NW_011332687.1:g.( ?_211144)_(221691_ ?)del | GRCh38.p12 | Second Pass | NW_011332687.1 | Chr1|NW_01 1332687.1 | 211,144 | 221,691 |
| essv7006972 | Remapped | Perfect | NW_011332687.1:g.( ?_211144)_(221691_ ?)del | GRCh38.p12 | Second Pass | NW_011332687.1 | Chr1|NW_01 1332687.1 | 211,144 | 221,691 |
| essv7006954 | Remapped | Perfect | NC_000001.11:g.(?_ 210431402)_(210439 184_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 210,431,402 | 210,439,184 |
| essv7006956 | Remapped | Perfect | NC_000001.11:g.(?_ 210431402)_(210439 184_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 210,431,402 | 210,439,184 |
| essv7006957 | Remapped | Perfect | NC_000001.11:g.(?_ 210431402)_(210439 184_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 210,431,402 | 210,439,184 |
| essv7006958 | Remapped | Perfect | NC_000001.11:g.(?_ 210431402)_(210439 184_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 210,431,402 | 210,439,184 |
| essv7006959 | Remapped | Perfect | NC_000001.11:g.(?_ 210431402)_(210439 184_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 210,431,402 | 210,439,184 |
| essv7006960 | Remapped | Perfect | NC_000001.11:g.(?_ 210431402)_(210439 184_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 210,431,402 | 210,439,184 |
| essv7006961 | Remapped | Perfect | NC_000001.11:g.(?_ 210431402)_(210439 184_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 210,431,402 | 210,439,184 |
| essv7006962 | Remapped | Perfect | NC_000001.11:g.(?_ 210431402)_(210439 184_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 210,431,402 | 210,439,184 |
| essv7006963 | Remapped | Perfect | NC_000001.11:g.(?_ 210431402)_(210439 184_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 210,431,402 | 210,439,184 |
| essv7006964 | Remapped | Perfect | NC_000001.11:g.(?_ 210431402)_(210439 184_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 210,431,402 | 210,439,184 |
| essv7006965 | Remapped | Perfect | NC_000001.11:g.(?_ 210431402)_(210439 184_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 210,431,402 | 210,439,184 |
| essv7006968 | Remapped | Perfect | NC_000001.11:g.(?_ 210431402)_(210439 184_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 210,431,402 | 210,439,184 |
| essv7006969 | Remapped | Perfect | NC_000001.11:g.(?_ 210431402)_(210439 184_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 210,431,402 | 210,439,184 |
| essv7006970 | Remapped | Perfect | NC_000001.11:g.(?_ 210431402)_(210439 184_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 210,431,402 | 210,439,184 |
| essv7006971 | Remapped | Perfect | NC_000001.11:g.(?_ 210431402)_(210441 949_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 210,431,402 | 210,441,949 |
| essv7006972 | Remapped | Perfect | NC_000001.11:g.(?_ 210431402)_(210441 949_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 210,431,402 | 210,441,949 |
| essv7006954 | Remapped | Perfect | NC_000001.10:g.(?_ 210604746)_(210612 528_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 210,604,746 | 210,612,528 |
| essv7006956 | Remapped | Perfect | NC_000001.10:g.(?_ 210604746)_(210612 528_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 210,604,746 | 210,612,528 |
| essv7006957 | Remapped | Perfect | NC_000001.10:g.(?_ 210604746)_(210612 528_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 210,604,746 | 210,612,528 |
| essv7006958 | Remapped | Perfect | NC_000001.10:g.(?_ 210604746)_(210612 528_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 210,604,746 | 210,612,528 |
| essv7006959 | Remapped | Perfect | NC_000001.10:g.(?_ 210604746)_(210612 528_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 210,604,746 | 210,612,528 |
| essv7006960 | Remapped | Perfect | NC_000001.10:g.(?_ 210604746)_(210612 528_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 210,604,746 | 210,612,528 |
| essv7006961 | Remapped | Perfect | NC_000001.10:g.(?_ 210604746)_(210612 528_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 210,604,746 | 210,612,528 |
| essv7006962 | Remapped | Perfect | NC_000001.10:g.(?_ 210604746)_(210612 528_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 210,604,746 | 210,612,528 |
| essv7006963 | Remapped | Perfect | NC_000001.10:g.(?_ 210604746)_(210612 528_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 210,604,746 | 210,612,528 |
| essv7006964 | Remapped | Perfect | NC_000001.10:g.(?_ 210604746)_(210612 528_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 210,604,746 | 210,612,528 |
| essv7006965 | Remapped | Perfect | NC_000001.10:g.(?_ 210604746)_(210612 528_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 210,604,746 | 210,612,528 |
| essv7006968 | Remapped | Perfect | NC_000001.10:g.(?_ 210604746)_(210612 528_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 210,604,746 | 210,612,528 |
| essv7006969 | Remapped | Perfect | NC_000001.10:g.(?_ 210604746)_(210612 528_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 210,604,746 | 210,612,528 |
| essv7006970 | Remapped | Perfect | NC_000001.10:g.(?_ 210604746)_(210612 528_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 210,604,746 | 210,612,528 |
| essv7006971 | Remapped | Perfect | NC_000001.10:g.(?_ 210604746)_(210615 293_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 210,604,746 | 210,615,293 |
| essv7006972 | Remapped | Perfect | NC_000001.10:g.(?_ 210604746)_(210615 293_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 210,604,746 | 210,615,293 |
| essv7006954 | Submitted genomic | NC_000001.9:g.(?_2 08671369)_(2086791 51_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 208,671,369 | 208,679,151 | ||
| essv7006956 | Submitted genomic | NC_000001.9:g.(?_2 08671369)_(2086791 51_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 208,671,369 | 208,679,151 | ||
| essv7006957 | Submitted genomic | NC_000001.9:g.(?_2 08671369)_(2086791 51_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 208,671,369 | 208,679,151 | ||
| essv7006958 | Submitted genomic | NC_000001.9:g.(?_2 08671369)_(2086791 51_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 208,671,369 | 208,679,151 | ||
| essv7006959 | Submitted genomic | NC_000001.9:g.(?_2 08671369)_(2086791 51_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 208,671,369 | 208,679,151 | ||
| essv7006960 | Submitted genomic | NC_000001.9:g.(?_2 08671369)_(2086791 51_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 208,671,369 | 208,679,151 | ||
| essv7006961 | Submitted genomic | NC_000001.9:g.(?_2 08671369)_(2086791 51_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 208,671,369 | 208,679,151 | ||
| essv7006962 | Submitted genomic | NC_000001.9:g.(?_2 08671369)_(2086791 51_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 208,671,369 | 208,679,151 | ||
| essv7006963 | Submitted genomic | NC_000001.9:g.(?_2 08671369)_(2086791 51_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 208,671,369 | 208,679,151 | ||
| essv7006964 | Submitted genomic | NC_000001.9:g.(?_2 08671369)_(2086791 51_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 208,671,369 | 208,679,151 | ||
| essv7006965 | Submitted genomic | NC_000001.9:g.(?_2 08671369)_(2086791 51_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 208,671,369 | 208,679,151 | ||
| essv7006968 | Submitted genomic | NC_000001.9:g.(?_2 08671369)_(2086791 51_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 208,671,369 | 208,679,151 | ||
| essv7006969 | Submitted genomic | NC_000001.9:g.(?_2 08671369)_(2086791 51_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 208,671,369 | 208,679,151 | ||
| essv7006970 | Submitted genomic | NC_000001.9:g.(?_2 08671369)_(2086791 51_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 208,671,369 | 208,679,151 | ||
| essv7006971 | Submitted genomic | NC_000001.9:g.(?_2 08671369)_(2086819 16_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 208,671,369 | 208,681,916 | ||
| essv7006972 | Submitted genomic | NC_000001.9:g.(?_2 08671369)_(2086819 16_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 208,671,369 | 208,681,916 |