esv3398570
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:13
- Validation:Fail
- Clinical Assertions: No
- Region Size:16,898
- Publication(s):1000 Genomes Project Consortium 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: 199 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 199 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 90 SVs from 14 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3398570 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 86,723,795 (-15, +5) | 86,740,692 (-14, +5) |
| esv3398570 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000013.10 | Chr13 | 87,376,050 (-15, +5) | 87,392,947 (-14, +5) |
| esv3398570 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000013.9 | Chr13 | 86,174,051 (-15, +5) | 86,190,948 (-14, +5) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7729923 | deletion | SAMN00001576 | Sequencing | Split read mapping | 3,660 |
| essv7729924 | deletion | SAMN00001594 | Sequencing | Split read mapping | 12,936 |
| essv7729925 | deletion | SAMN00001616 | Sequencing | Split read mapping | 16,444 |
| essv7729926 | deletion | SAMN00001593 | Sequencing | Split read mapping | 15,444 |
| essv7729927 | deletion | SAMN00001525 | Sequencing | Split read mapping | 19,957 |
| essv7729928 | deletion | SAMN00801031 | Sequencing | Split read mapping | 9,208 |
| essv7729929 | deletion | SAMN00801027 | Sequencing | Split read mapping | 12,816 |
| essv7729930 | deletion | SAMN00801888 | Sequencing | Split read mapping | 69,298 |
| essv7729931 | deletion | SAMN00001583 | Sequencing | Split read mapping | 12,092 |
| essv7729933 | deletion | SAMN00001602 | Sequencing | Split read mapping | 14,902 |
| essv7729934 | deletion | SAMN00001597 | Sequencing | Split read mapping | 14,192 |
| essv7729935 | deletion | SAMN00797419 | Sequencing | Split read mapping | 10,938 |
| essv7729936 | deletion | SAMN00001596 | Sequencing | Split read mapping | 14,505 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv7729923 | Remapped | Perfect | NC_000013.11:g.(86 723780_86723800)_( 86740678_86740697) del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 86,723,795 (-15, +5) | 86,740,692 (-14, +5) |
| essv7729924 | Remapped | Perfect | NC_000013.11:g.(86 723780_86723800)_( 86740678_86740697) del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 86,723,795 (-15, +5) | 86,740,692 (-14, +5) |
| essv7729925 | Remapped | Perfect | NC_000013.11:g.(86 723780_86723800)_( 86740678_86740697) del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 86,723,795 (-15, +5) | 86,740,692 (-14, +5) |
| essv7729926 | Remapped | Perfect | NC_000013.11:g.(86 723780_86723800)_( 86740678_86740697) del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 86,723,795 (-15, +5) | 86,740,692 (-14, +5) |
| essv7729927 | Remapped | Perfect | NC_000013.11:g.(86 723780_86723800)_( 86740678_86740697) del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 86,723,795 (-15, +5) | 86,740,692 (-14, +5) |
| essv7729928 | Remapped | Perfect | NC_000013.11:g.(86 723780_86723800)_( 86740678_86740697) del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 86,723,795 (-15, +5) | 86,740,692 (-14, +5) |
| essv7729929 | Remapped | Perfect | NC_000013.11:g.(86 723780_86723800)_( 86740678_86740697) del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 86,723,795 (-15, +5) | 86,740,692 (-14, +5) |
| essv7729930 | Remapped | Perfect | NC_000013.11:g.(86 723780_86723800)_( 86740678_86740697) del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 86,723,795 (-15, +5) | 86,740,692 (-14, +5) |
| essv7729931 | Remapped | Perfect | NC_000013.11:g.(86 723780_86723800)_( 86740678_86740697) del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 86,723,795 (-15, +5) | 86,740,692 (-14, +5) |
| essv7729933 | Remapped | Perfect | NC_000013.11:g.(86 723780_86723800)_( 86740678_86740697) del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 86,723,795 (-15, +5) | 86,740,692 (-14, +5) |
| essv7729934 | Remapped | Perfect | NC_000013.11:g.(86 723780_86723800)_( 86740678_86740697) del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 86,723,795 (-15, +5) | 86,740,692 (-14, +5) |
| essv7729935 | Remapped | Perfect | NC_000013.11:g.(86 723780_86723800)_( 86740678_86740697) del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 86,723,795 (-15, +5) | 86,740,692 (-14, +5) |
| essv7729936 | Remapped | Perfect | NC_000013.11:g.(86 723780_86723800)_( 86740678_86740697) del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 86,723,795 (-15, +5) | 86,740,692 (-14, +5) |
| essv7729923 | Remapped | Perfect | NC_000013.10:g.(87 376035_87376055)_( 87392933_87392952) del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 87,376,050 (-15, +5) | 87,392,947 (-14, +5) |
| essv7729924 | Remapped | Perfect | NC_000013.10:g.(87 376035_87376055)_( 87392933_87392952) del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 87,376,050 (-15, +5) | 87,392,947 (-14, +5) |
| essv7729925 | Remapped | Perfect | NC_000013.10:g.(87 376035_87376055)_( 87392933_87392952) del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 87,376,050 (-15, +5) | 87,392,947 (-14, +5) |
| essv7729926 | Remapped | Perfect | NC_000013.10:g.(87 376035_87376055)_( 87392933_87392952) del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 87,376,050 (-15, +5) | 87,392,947 (-14, +5) |
| essv7729927 | Remapped | Perfect | NC_000013.10:g.(87 376035_87376055)_( 87392933_87392952) del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 87,376,050 (-15, +5) | 87,392,947 (-14, +5) |
| essv7729928 | Remapped | Perfect | NC_000013.10:g.(87 376035_87376055)_( 87392933_87392952) del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 87,376,050 (-15, +5) | 87,392,947 (-14, +5) |
| essv7729929 | Remapped | Perfect | NC_000013.10:g.(87 376035_87376055)_( 87392933_87392952) del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 87,376,050 (-15, +5) | 87,392,947 (-14, +5) |
| essv7729930 | Remapped | Perfect | NC_000013.10:g.(87 376035_87376055)_( 87392933_87392952) del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 87,376,050 (-15, +5) | 87,392,947 (-14, +5) |
| essv7729931 | Remapped | Perfect | NC_000013.10:g.(87 376035_87376055)_( 87392933_87392952) del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 87,376,050 (-15, +5) | 87,392,947 (-14, +5) |
| essv7729933 | Remapped | Perfect | NC_000013.10:g.(87 376035_87376055)_( 87392933_87392952) del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 87,376,050 (-15, +5) | 87,392,947 (-14, +5) |
| essv7729934 | Remapped | Perfect | NC_000013.10:g.(87 376035_87376055)_( 87392933_87392952) del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 87,376,050 (-15, +5) | 87,392,947 (-14, +5) |
| essv7729935 | Remapped | Perfect | NC_000013.10:g.(87 376035_87376055)_( 87392933_87392952) del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 87,376,050 (-15, +5) | 87,392,947 (-14, +5) |
| essv7729936 | Remapped | Perfect | NC_000013.10:g.(87 376035_87376055)_( 87392933_87392952) del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 87,376,050 (-15, +5) | 87,392,947 (-14, +5) |
| essv7729923 | Submitted genomic | NC_000013.9:g.(861 74036_86174056)_(8 6190934_86190953)d el | NCBI36 (hg18) | NC_000013.9 | Chr13 | 86,174,051 (-15, +5) | 86,190,948 (-14, +5) | ||
| essv7729924 | Submitted genomic | NC_000013.9:g.(861 74036_86174056)_(8 6190934_86190953)d el | NCBI36 (hg18) | NC_000013.9 | Chr13 | 86,174,051 (-15, +5) | 86,190,948 (-14, +5) | ||
| essv7729925 | Submitted genomic | NC_000013.9:g.(861 74036_86174056)_(8 6190934_86190953)d el | NCBI36 (hg18) | NC_000013.9 | Chr13 | 86,174,051 (-15, +5) | 86,190,948 (-14, +5) | ||
| essv7729926 | Submitted genomic | NC_000013.9:g.(861 74036_86174056)_(8 6190934_86190953)d el | NCBI36 (hg18) | NC_000013.9 | Chr13 | 86,174,051 (-15, +5) | 86,190,948 (-14, +5) | ||
| essv7729927 | Submitted genomic | NC_000013.9:g.(861 74036_86174056)_(8 6190934_86190953)d el | NCBI36 (hg18) | NC_000013.9 | Chr13 | 86,174,051 (-15, +5) | 86,190,948 (-14, +5) | ||
| essv7729928 | Submitted genomic | NC_000013.9:g.(861 74036_86174056)_(8 6190934_86190953)d el | NCBI36 (hg18) | NC_000013.9 | Chr13 | 86,174,051 (-15, +5) | 86,190,948 (-14, +5) | ||
| essv7729929 | Submitted genomic | NC_000013.9:g.(861 74036_86174056)_(8 6190934_86190953)d el | NCBI36 (hg18) | NC_000013.9 | Chr13 | 86,174,051 (-15, +5) | 86,190,948 (-14, +5) | ||
| essv7729930 | Submitted genomic | NC_000013.9:g.(861 74036_86174056)_(8 6190934_86190953)d el | NCBI36 (hg18) | NC_000013.9 | Chr13 | 86,174,051 (-15, +5) | 86,190,948 (-14, +5) | ||
| essv7729931 | Submitted genomic | NC_000013.9:g.(861 74036_86174056)_(8 6190934_86190953)d el | NCBI36 (hg18) | NC_000013.9 | Chr13 | 86,174,051 (-15, +5) | 86,190,948 (-14, +5) | ||
| essv7729933 | Submitted genomic | NC_000013.9:g.(861 74036_86174056)_(8 6190934_86190953)d el | NCBI36 (hg18) | NC_000013.9 | Chr13 | 86,174,051 (-15, +5) | 86,190,948 (-14, +5) | ||
| essv7729934 | Submitted genomic | NC_000013.9:g.(861 74036_86174056)_(8 6190934_86190953)d el | NCBI36 (hg18) | NC_000013.9 | Chr13 | 86,174,051 (-15, +5) | 86,190,948 (-14, +5) | ||
| essv7729935 | Submitted genomic | NC_000013.9:g.(861 74036_86174056)_(8 6190934_86190953)d el | NCBI36 (hg18) | NC_000013.9 | Chr13 | 86,174,051 (-15, +5) | 86,190,948 (-14, +5) | ||
| essv7729936 | Submitted genomic | NC_000013.9:g.(861 74036_86174056)_(8 6190934_86190953)d el | NCBI36 (hg18) | NC_000013.9 | Chr13 | 86,174,051 (-15, +5) | 86,190,948 (-14, +5) |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv7729927 | 36 | SAMN00001525 | Digital array | Other | Fail |
| essv7729927 | 38 | SAMN00001525 | Digital array | Other | Fail |
| essv7729923 | 36 | SAMN00001576 | Digital array | Other | Fail |
| essv7729923 | 38 | SAMN00001576 | Digital array | Other | Fail |
| essv7729931 | 36 | SAMN00001583 | Digital array | Other | Fail |
| essv7729931 | 38 | SAMN00001583 | Digital array | Other | Fail |
| essv7729926 | 36 | SAMN00001593 | Digital array | Other | Fail |
| essv7729926 | 38 | SAMN00001593 | Digital array | Other | Fail |
| essv7729924 | 36 | SAMN00001594 | Digital array | Other | Fail |
| essv7729924 | 38 | SAMN00001594 | Digital array | Other | Fail |
| essv7729936 | 36 | SAMN00001596 | Digital array | Other | Fail |
| essv7729936 | 38 | SAMN00001596 | Digital array | Other | Fail |
| essv7729934 | 36 | SAMN00001597 | Digital array | Other | Fail |
| essv7729934 | 38 | SAMN00001597 | Digital array | Other | Fail |
| essv7729933 | 36 | SAMN00001602 | Digital array | Other | Fail |
| essv7729933 | 38 | SAMN00001602 | Digital array | Other | Fail |
| essv7729925 | 36 | SAMN00001616 | Digital array | Other | Fail |
| essv7729925 | 38 | SAMN00001616 | Digital array | Other | Fail |
| essv7729935 | 36 | SAMN00797419 | Digital array | Other | Fail |
| essv7729935 | 38 | SAMN00797419 | Digital array | Other | Fail |
| essv7729929 | 36 | SAMN00801027 | Digital array | Other | Fail |
| essv7729929 | 38 | SAMN00801027 | Digital array | Other | Fail |
| essv7729928 | 36 | SAMN00801031 | Digital array | Other | Fail |
| essv7729928 | 38 | SAMN00801031 | Digital array | Other | Fail |
| essv7729930 | 36 | SAMN00801888 | Digital array | Other | Fail |
| essv7729930 | 38 | SAMN00801888 | Digital array | Other | Fail |