esv3874450

Organism: Homo sapiens

Study:estd219 (1000 Genomes Consortium Phase 3 Integrated SV)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:16
Validation:Not tested
Clinical Assertions: No
Region Size:101,937

Publication(s):1000 Genomes Consortium Phase 3 Integrated SV

Links to Other Resources

Overlapping Genes

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: 2110 SVs from 98 studies. See in: genome view

Remapped(Score: Perfect):24,212,464-24,316,400

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3874450	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000015.10	Chr15	24,213,464 (-1000, +500)	24,315,400 (-500, +1000)
esv3874450	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000015.9	Chr15	24,458,611 (-1000, +500)	24,560,547 (-500, +1000)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv23668328	deletion	HG00140	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,472
essv23668329	deletion	HG01140	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,523
essv23668330	deletion	HG02628	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,138
essv23668331	deletion	HG03123	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,821
essv23668332	deletion	HG03636	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,175
essv23668333	deletion	HG03817	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,219
essv23668334	deletion	HG03862	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,302
essv23668335	deletion	HG03884	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,416
essv23668336	deletion	NA19204	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,129
essv23668337	deletion	NA19238	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,190
essv23668338	deletion	NA19332	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,777
essv23668339	deletion	NA19788	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,263
essv23668340	deletion	NA19795	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,467
essv23668341	deletion	NA20852	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,652
essv23668342	deletion	NA20856	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,304
essv23668343	deletion	NA21107	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,587

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv23668328	Remapped	Perfect	NC_000015.10:g.(24 212464_24213964)_( 24314900_24316400) del	GRCh38.p12	First Pass	NC_000015.10	Chr15	24,213,464 (-1000, +500)	24,315,400 (-500, +1000)
essv23668329	Remapped	Perfect	NC_000015.10:g.(24 212464_24213964)_( 24314900_24316400) del	GRCh38.p12	First Pass	NC_000015.10	Chr15	24,213,464 (-1000, +500)	24,315,400 (-500, +1000)
essv23668330	Remapped	Perfect	NC_000015.10:g.(24 212464_24213964)_( 24314900_24316400) del	GRCh38.p12	First Pass	NC_000015.10	Chr15	24,213,464 (-1000, +500)	24,315,400 (-500, +1000)
essv23668331	Remapped	Perfect	NC_000015.10:g.(24 212464_24213964)_( 24314900_24316400) del	GRCh38.p12	First Pass	NC_000015.10	Chr15	24,213,464 (-1000, +500)	24,315,400 (-500, +1000)
essv23668332	Remapped	Perfect	NC_000015.10:g.(24 212464_24213964)_( 24314900_24316400) del	GRCh38.p12	First Pass	NC_000015.10	Chr15	24,213,464 (-1000, +500)	24,315,400 (-500, +1000)
essv23668333	Remapped	Perfect	NC_000015.10:g.(24 212464_24213964)_( 24314900_24316400) del	GRCh38.p12	First Pass	NC_000015.10	Chr15	24,213,464 (-1000, +500)	24,315,400 (-500, +1000)
essv23668334	Remapped	Perfect	NC_000015.10:g.(24 212464_24213964)_( 24314900_24316400) del	GRCh38.p12	First Pass	NC_000015.10	Chr15	24,213,464 (-1000, +500)	24,315,400 (-500, +1000)
essv23668335	Remapped	Perfect	NC_000015.10:g.(24 212464_24213964)_( 24314900_24316400) del	GRCh38.p12	First Pass	NC_000015.10	Chr15	24,213,464 (-1000, +500)	24,315,400 (-500, +1000)
essv23668336	Remapped	Perfect	NC_000015.10:g.(24 212464_24213964)_( 24314900_24316400) del	GRCh38.p12	First Pass	NC_000015.10	Chr15	24,213,464 (-1000, +500)	24,315,400 (-500, +1000)
essv23668337	Remapped	Perfect	NC_000015.10:g.(24 212464_24213964)_( 24314900_24316400) del	GRCh38.p12	First Pass	NC_000015.10	Chr15	24,213,464 (-1000, +500)	24,315,400 (-500, +1000)
essv23668338	Remapped	Perfect	NC_000015.10:g.(24 212464_24213964)_( 24314900_24316400) del	GRCh38.p12	First Pass	NC_000015.10	Chr15	24,213,464 (-1000, +500)	24,315,400 (-500, +1000)
essv23668339	Remapped	Perfect	NC_000015.10:g.(24 212464_24213964)_( 24314900_24316400) del	GRCh38.p12	First Pass	NC_000015.10	Chr15	24,213,464 (-1000, +500)	24,315,400 (-500, +1000)
essv23668340	Remapped	Perfect	NC_000015.10:g.(24 212464_24213964)_( 24314900_24316400) del	GRCh38.p12	First Pass	NC_000015.10	Chr15	24,213,464 (-1000, +500)	24,315,400 (-500, +1000)
essv23668341	Remapped	Perfect	NC_000015.10:g.(24 212464_24213964)_( 24314900_24316400) del	GRCh38.p12	First Pass	NC_000015.10	Chr15	24,213,464 (-1000, +500)	24,315,400 (-500, +1000)
essv23668342	Remapped	Perfect	NC_000015.10:g.(24 212464_24213964)_( 24314900_24316400) del	GRCh38.p12	First Pass	NC_000015.10	Chr15	24,213,464 (-1000, +500)	24,315,400 (-500, +1000)
essv23668343	Remapped	Perfect	NC_000015.10:g.(24 212464_24213964)_( 24314900_24316400) del	GRCh38.p12	First Pass	NC_000015.10	Chr15	24,213,464 (-1000, +500)	24,315,400 (-500, +1000)
essv23668328	Submitted genomic		NC_000015.9:g.(244 57611_24459111)_(2 4560047_24561547)d el	GRCh37 (hg19)		NC_000015.9	Chr15	24,458,611 (-1000, +500)	24,560,547 (-500, +1000)
essv23668329	Submitted genomic		NC_000015.9:g.(244 57611_24459111)_(2 4560047_24561547)d el	GRCh37 (hg19)		NC_000015.9	Chr15	24,458,611 (-1000, +500)	24,560,547 (-500, +1000)
essv23668330	Submitted genomic		NC_000015.9:g.(244 57611_24459111)_(2 4560047_24561547)d el	GRCh37 (hg19)		NC_000015.9	Chr15	24,458,611 (-1000, +500)	24,560,547 (-500, +1000)
essv23668331	Submitted genomic		NC_000015.9:g.(244 57611_24459111)_(2 4560047_24561547)d el	GRCh37 (hg19)		NC_000015.9	Chr15	24,458,611 (-1000, +500)	24,560,547 (-500, +1000)
essv23668332	Submitted genomic		NC_000015.9:g.(244 57611_24459111)_(2 4560047_24561547)d el	GRCh37 (hg19)		NC_000015.9	Chr15	24,458,611 (-1000, +500)	24,560,547 (-500, +1000)
essv23668333	Submitted genomic		NC_000015.9:g.(244 57611_24459111)_(2 4560047_24561547)d el	GRCh37 (hg19)		NC_000015.9	Chr15	24,458,611 (-1000, +500)	24,560,547 (-500, +1000)
essv23668334	Submitted genomic		NC_000015.9:g.(244 57611_24459111)_(2 4560047_24561547)d el	GRCh37 (hg19)		NC_000015.9	Chr15	24,458,611 (-1000, +500)	24,560,547 (-500, +1000)
essv23668335	Submitted genomic		NC_000015.9:g.(244 57611_24459111)_(2 4560047_24561547)d el	GRCh37 (hg19)		NC_000015.9	Chr15	24,458,611 (-1000, +500)	24,560,547 (-500, +1000)
essv23668336	Submitted genomic		NC_000015.9:g.(244 57611_24459111)_(2 4560047_24561547)d el	GRCh37 (hg19)		NC_000015.9	Chr15	24,458,611 (-1000, +500)	24,560,547 (-500, +1000)
essv23668337	Submitted genomic		NC_000015.9:g.(244 57611_24459111)_(2 4560047_24561547)d el	GRCh37 (hg19)		NC_000015.9	Chr15	24,458,611 (-1000, +500)	24,560,547 (-500, +1000)
essv23668338	Submitted genomic		NC_000015.9:g.(244 57611_24459111)_(2 4560047_24561547)d el	GRCh37 (hg19)		NC_000015.9	Chr15	24,458,611 (-1000, +500)	24,560,547 (-500, +1000)
essv23668339	Submitted genomic		NC_000015.9:g.(244 57611_24459111)_(2 4560047_24561547)d el	GRCh37 (hg19)		NC_000015.9	Chr15	24,458,611 (-1000, +500)	24,560,547 (-500, +1000)
essv23668340	Submitted genomic		NC_000015.9:g.(244 57611_24459111)_(2 4560047_24561547)d el	GRCh37 (hg19)		NC_000015.9	Chr15	24,458,611 (-1000, +500)	24,560,547 (-500, +1000)
essv23668341	Submitted genomic		NC_000015.9:g.(244 57611_24459111)_(2 4560047_24561547)d el	GRCh37 (hg19)		NC_000015.9	Chr15	24,458,611 (-1000, +500)	24,560,547 (-500, +1000)
essv23668342	Submitted genomic		NC_000015.9:g.(244 57611_24459111)_(2 4560047_24561547)d el	GRCh37 (hg19)		NC_000015.9	Chr15	24,458,611 (-1000, +500)	24,560,547 (-500, +1000)
essv23668343	Submitted genomic		NC_000015.9:g.(244 57611_24459111)_(2 4560047_24561547)d el	GRCh37 (hg19)		NC_000015.9	Chr15	24,458,611 (-1000, +500)	24,560,547 (-500, +1000)

dbVar

Database of genomic structural variation

esv3874450

Links to Other Resources

Genome View

Variant Region Placement Information

Variant Call Information

Variant Call Placement Information

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype and/or allele frequency data can be found on dbVar's FTP site.