esv2757316
- Organism: Homo sapiens
- Study:estd1 (Redon et al. 2006)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:6
- Validation:Not tested
- Clinical Assertions: No
- Region Size:359,742
- Publication(s):Redon et al. 2006
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: 4272 SVs from 106 studies. See in: genome view
Overlapping variant regions from other studies: 4276 SVs from 106 studies. See in: genome view
Overlapping variant regions from other studies: 137 SVs from 12 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 |
---|---|---|---|---|---|---|---|---|---|
esv2757316 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 11,837,866 | 12,197,607 |
esv2757316 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000009.11 | Chr9 | 11,837,866 | 12,197,607 |
esv2757316 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000009.9 | Chr9 | 11,827,866 | 12,187,607 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
essv13999 | copy number loss | NA19222 | SNP array | SNP genotyping analysis | 94 |
essv8006 | copy number loss | NA19221 | SNP array | SNP genotyping analysis | 89 |
essv13383 | copy number loss | NA19159 | SNP array | SNP genotyping analysis | 142 |
essv3936 | copy number loss | NA18970 | SNP array | SNP genotyping analysis | 100 |
essv8081 | copy number loss | NA19161 | SNP array | SNP genotyping analysis | 144 |
essv2107 | copy number loss | NA18959 | SNP array | SNP genotyping analysis | 84 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
essv13999 | Remapped | Perfect | NC_000009.12:g.(11 837866_11868796)_( 12182768_12197607) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 11,837,866 | 11,868,796 | 12,182,768 | 12,197,607 |
essv8006 | Remapped | Perfect | NC_000009.12:g.(11 868796_11868796)_( 12182768_12197607) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 11,868,796 | 11,868,796 | 12,182,768 | 12,197,607 |
essv13383 | Remapped | Perfect | NC_000009.12:g.(11 905556_11913220)_( 12007006_12031984) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 11,905,556 | 11,913,220 | 12,007,006 | 12,031,984 |
essv3936 | Remapped | Perfect | NC_000009.12:g.(11 905556_11957750)_( 12078499_12091983) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 11,905,556 | 11,957,750 | 12,078,499 | 12,091,983 |
essv8081 | Remapped | Perfect | NC_000009.12:g.(11 913220_11913220)_( 12007006_12028523) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 11,913,220 | 11,913,220 | 12,007,006 | 12,028,523 |
essv2107 | Remapped | Perfect | NC_000009.12:g.(12 007006_12018371)_( 12099364_12117194) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 12,007,006 | 12,018,371 | 12,099,364 | 12,117,194 |
essv13999 | Remapped | Perfect | NC_000009.11:g.(11 837866_11868796)_( 12182768_12197607) del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 11,837,866 | 11,868,796 | 12,182,768 | 12,197,607 |
essv8006 | Remapped | Perfect | NC_000009.11:g.(11 868796_11868796)_( 12182768_12197607) del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 11,868,796 | 11,868,796 | 12,182,768 | 12,197,607 |
essv13383 | Remapped | Perfect | NC_000009.11:g.(11 905556_11913220)_( 12007006_12031984) del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 11,905,556 | 11,913,220 | 12,007,006 | 12,031,984 |
essv3936 | Remapped | Perfect | NC_000009.11:g.(11 905556_11957750)_( 12078499_12091983) del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 11,905,556 | 11,957,750 | 12,078,499 | 12,091,983 |
essv8081 | Remapped | Perfect | NC_000009.11:g.(11 913220_11913220)_( 12007006_12028523) del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 11,913,220 | 11,913,220 | 12,007,006 | 12,028,523 |
essv2107 | Remapped | Perfect | NC_000009.11:g.(12 007006_12018371)_( 12099364_12117194) del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 12,007,006 | 12,018,371 | 12,099,364 | 12,117,194 |
essv13999 | Submitted genomic | NC_000009.9:g.(118 27866_11858796)_(1 2172768_12187607)d el | NCBI35 (hg17) | NC_000009.9 | Chr9 | 11,827,866 | 11,858,796 | 12,172,768 | 12,187,607 | ||
essv8006 | Submitted genomic | NC_000009.9:g.(118 58796_11858796)_(1 2172768_12187607)d el | NCBI35 (hg17) | NC_000009.9 | Chr9 | 11,858,796 | 11,858,796 | 12,172,768 | 12,187,607 | ||
essv13383 | Submitted genomic | NC_000009.9:g.(118 95556_11903220)_(1 1997006_12021984)d el | NCBI35 (hg17) | NC_000009.9 | Chr9 | 11,895,556 | 11,903,220 | 11,997,006 | 12,021,984 | ||
essv3936 | Submitted genomic | NC_000009.9:g.(118 95556_11947750)_(1 2068499_12081983)d el | NCBI35 (hg17) | NC_000009.9 | Chr9 | 11,895,556 | 11,947,750 | 12,068,499 | 12,081,983 | ||
essv8081 | Submitted genomic | NC_000009.9:g.(119 03220_11903220)_(1 1997006_12018523)d el | NCBI35 (hg17) | NC_000009.9 | Chr9 | 11,903,220 | 11,903,220 | 11,997,006 | 12,018,523 | ||
essv2107 | Submitted genomic | NC_000009.9:g.(119 97006_12008371)_(1 2089364_12107194)d el | NCBI35 (hg17) | NC_000009.9 | Chr9 | 11,997,006 | 12,008,371 | 12,089,364 | 12,107,194 |