esv3848710

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:14
Validation:Not tested
Clinical Assertions: No
Region Size:13,392

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: 201 SVs from 48 studies. See in: genome view

Remapped(Score: Perfect):24,260,792-24,274,617

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3848710	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	24,261,007 (-215, +0)	24,274,398 (-0, +219)
esv3848710	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	24,300,626 (-215, +0)	24,314,017 (-0, +219)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv20576263	deletion	HG01914	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,133
essv20576264	deletion	HG01986	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,160
essv20576265	deletion	HG02053	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,221
essv20576266	deletion	HG02537	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,175
essv20576267	deletion	HG02629	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,928
essv20576268	deletion	HG02971	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,790
essv20576269	deletion	HG03351	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,155
essv20576270	deletion	HG03391	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,187
essv20576271	deletion	HG03547	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,826
essv20576272	deletion	HG03565	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,945
essv20576273	deletion	HG03583	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,621
essv20576274	deletion	NA18502	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,033
essv20576275	deletion	NA18877	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,288
essv20576276	deletion	NA19204	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,129

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv20576263	Remapped	Perfect	NC_000007.14:g.(24 260792_24261007)_( 24274398_24274617) del	GRCh38.p12	First Pass	NC_000007.14	Chr7	24,261,007 (-215, +0)	24,274,398 (-0, +219)
essv20576264	Remapped	Perfect	NC_000007.14:g.(24 260792_24261007)_( 24274398_24274617) del	GRCh38.p12	First Pass	NC_000007.14	Chr7	24,261,007 (-215, +0)	24,274,398 (-0, +219)
essv20576265	Remapped	Perfect	NC_000007.14:g.(24 260792_24261007)_( 24274398_24274617) del	GRCh38.p12	First Pass	NC_000007.14	Chr7	24,261,007 (-215, +0)	24,274,398 (-0, +219)
essv20576266	Remapped	Perfect	NC_000007.14:g.(24 260792_24261007)_( 24274398_24274617) del	GRCh38.p12	First Pass	NC_000007.14	Chr7	24,261,007 (-215, +0)	24,274,398 (-0, +219)
essv20576267	Remapped	Perfect	NC_000007.14:g.(24 260792_24261007)_( 24274398_24274617) del	GRCh38.p12	First Pass	NC_000007.14	Chr7	24,261,007 (-215, +0)	24,274,398 (-0, +219)
essv20576268	Remapped	Perfect	NC_000007.14:g.(24 260792_24261007)_( 24274398_24274617) del	GRCh38.p12	First Pass	NC_000007.14	Chr7	24,261,007 (-215, +0)	24,274,398 (-0, +219)
essv20576269	Remapped	Perfect	NC_000007.14:g.(24 260792_24261007)_( 24274398_24274617) del	GRCh38.p12	First Pass	NC_000007.14	Chr7	24,261,007 (-215, +0)	24,274,398 (-0, +219)
essv20576270	Remapped	Perfect	NC_000007.14:g.(24 260792_24261007)_( 24274398_24274617) del	GRCh38.p12	First Pass	NC_000007.14	Chr7	24,261,007 (-215, +0)	24,274,398 (-0, +219)
essv20576271	Remapped	Perfect	NC_000007.14:g.(24 260792_24261007)_( 24274398_24274617) del	GRCh38.p12	First Pass	NC_000007.14	Chr7	24,261,007 (-215, +0)	24,274,398 (-0, +219)
essv20576272	Remapped	Perfect	NC_000007.14:g.(24 260792_24261007)_( 24274398_24274617) del	GRCh38.p12	First Pass	NC_000007.14	Chr7	24,261,007 (-215, +0)	24,274,398 (-0, +219)
essv20576273	Remapped	Perfect	NC_000007.14:g.(24 260792_24261007)_( 24274398_24274617) del	GRCh38.p12	First Pass	NC_000007.14	Chr7	24,261,007 (-215, +0)	24,274,398 (-0, +219)
essv20576274	Remapped	Perfect	NC_000007.14:g.(24 260792_24261007)_( 24274398_24274617) del	GRCh38.p12	First Pass	NC_000007.14	Chr7	24,261,007 (-215, +0)	24,274,398 (-0, +219)
essv20576275	Remapped	Perfect	NC_000007.14:g.(24 260792_24261007)_( 24274398_24274617) del	GRCh38.p12	First Pass	NC_000007.14	Chr7	24,261,007 (-215, +0)	24,274,398 (-0, +219)
essv20576276	Remapped	Perfect	NC_000007.14:g.(24 260792_24261007)_( 24274398_24274617) del	GRCh38.p12	First Pass	NC_000007.14	Chr7	24,261,007 (-215, +0)	24,274,398 (-0, +219)
essv20576263	Submitted genomic		NC_000007.13:g.(24 300411_24300626)_( 24314017_24314236) del	GRCh37 (hg19)		NC_000007.13	Chr7	24,300,626 (-215, +0)	24,314,017 (-0, +219)
essv20576264	Submitted genomic		NC_000007.13:g.(24 300411_24300626)_( 24314017_24314236) del	GRCh37 (hg19)		NC_000007.13	Chr7	24,300,626 (-215, +0)	24,314,017 (-0, +219)
essv20576265	Submitted genomic		NC_000007.13:g.(24 300411_24300626)_( 24314017_24314236) del	GRCh37 (hg19)		NC_000007.13	Chr7	24,300,626 (-215, +0)	24,314,017 (-0, +219)
essv20576266	Submitted genomic		NC_000007.13:g.(24 300411_24300626)_( 24314017_24314236) del	GRCh37 (hg19)		NC_000007.13	Chr7	24,300,626 (-215, +0)	24,314,017 (-0, +219)
essv20576267	Submitted genomic		NC_000007.13:g.(24 300411_24300626)_( 24314017_24314236) del	GRCh37 (hg19)		NC_000007.13	Chr7	24,300,626 (-215, +0)	24,314,017 (-0, +219)
essv20576268	Submitted genomic		NC_000007.13:g.(24 300411_24300626)_( 24314017_24314236) del	GRCh37 (hg19)		NC_000007.13	Chr7	24,300,626 (-215, +0)	24,314,017 (-0, +219)
essv20576269	Submitted genomic		NC_000007.13:g.(24 300411_24300626)_( 24314017_24314236) del	GRCh37 (hg19)		NC_000007.13	Chr7	24,300,626 (-215, +0)	24,314,017 (-0, +219)
essv20576270	Submitted genomic		NC_000007.13:g.(24 300411_24300626)_( 24314017_24314236) del	GRCh37 (hg19)		NC_000007.13	Chr7	24,300,626 (-215, +0)	24,314,017 (-0, +219)
essv20576271	Submitted genomic		NC_000007.13:g.(24 300411_24300626)_( 24314017_24314236) del	GRCh37 (hg19)		NC_000007.13	Chr7	24,300,626 (-215, +0)	24,314,017 (-0, +219)
essv20576272	Submitted genomic		NC_000007.13:g.(24 300411_24300626)_( 24314017_24314236) del	GRCh37 (hg19)		NC_000007.13	Chr7	24,300,626 (-215, +0)	24,314,017 (-0, +219)
essv20576273	Submitted genomic		NC_000007.13:g.(24 300411_24300626)_( 24314017_24314236) del	GRCh37 (hg19)		NC_000007.13	Chr7	24,300,626 (-215, +0)	24,314,017 (-0, +219)
essv20576274	Submitted genomic		NC_000007.13:g.(24 300411_24300626)_( 24314017_24314236) del	GRCh37 (hg19)		NC_000007.13	Chr7	24,300,626 (-215, +0)	24,314,017 (-0, +219)
essv20576275	Submitted genomic		NC_000007.13:g.(24 300411_24300626)_( 24314017_24314236) del	GRCh37 (hg19)		NC_000007.13	Chr7	24,300,626 (-215, +0)	24,314,017 (-0, +219)
essv20576276	Submitted genomic		NC_000007.13:g.(24 300411_24300626)_( 24314017_24314236) del	GRCh37 (hg19)		NC_000007.13	Chr7	24,300,626 (-215, +0)	24,314,017 (-0, +219)

dbVar

Database of genomic structural variation

esv3848710

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.