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dbVar

Database of genomic structural variation

esv3836320

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:5
Validation:Not tested
Clinical Assertions: No
Region Size:128,881

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: 422 SVs from 53 studies. See in: genome view

Remapped(Score: Perfect):97,776,653-97,905,588

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3836320	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	97,776,680 (-27, +28)	97,905,560 (-27, +28)
esv3836320	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	98,697,831 (-27, +28)	98,826,711 (-27, +28)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv19007692	deletion	HG01134	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,536
essv19007693	deletion	HG01142	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,782
essv19007694	deletion	HG01260	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,448
essv19007695	deletion	HG01435	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,507
essv19007696	deletion	HG03949	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,161

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv19007692	Remapped	Perfect	NC_000004.12:g.(97 776653_97776708)_( 97905533_97905588) del	GRCh38.p12	First Pass	NC_000004.12	Chr4	97,776,680 (-27, +28)	97,905,560 (-27, +28)
essv19007693	Remapped	Perfect	NC_000004.12:g.(97 776653_97776708)_( 97905533_97905588) del	GRCh38.p12	First Pass	NC_000004.12	Chr4	97,776,680 (-27, +28)	97,905,560 (-27, +28)
essv19007694	Remapped	Perfect	NC_000004.12:g.(97 776653_97776708)_( 97905533_97905588) del	GRCh38.p12	First Pass	NC_000004.12	Chr4	97,776,680 (-27, +28)	97,905,560 (-27, +28)
essv19007695	Remapped	Perfect	NC_000004.12:g.(97 776653_97776708)_( 97905533_97905588) del	GRCh38.p12	First Pass	NC_000004.12	Chr4	97,776,680 (-27, +28)	97,905,560 (-27, +28)
essv19007696	Remapped	Perfect	NC_000004.12:g.(97 776653_97776708)_( 97905533_97905588) del	GRCh38.p12	First Pass	NC_000004.12	Chr4	97,776,680 (-27, +28)	97,905,560 (-27, +28)
essv19007692	Submitted genomic		NC_000004.11:g.(98 697804_98697859)_( 98826684_98826739) del	GRCh37 (hg19)		NC_000004.11	Chr4	98,697,831 (-27, +28)	98,826,711 (-27, +28)
essv19007693	Submitted genomic		NC_000004.11:g.(98 697804_98697859)_( 98826684_98826739) del	GRCh37 (hg19)		NC_000004.11	Chr4	98,697,831 (-27, +28)	98,826,711 (-27, +28)
essv19007694	Submitted genomic		NC_000004.11:g.(98 697804_98697859)_( 98826684_98826739) del	GRCh37 (hg19)		NC_000004.11	Chr4	98,697,831 (-27, +28)	98,826,711 (-27, +28)
essv19007695	Submitted genomic		NC_000004.11:g.(98 697804_98697859)_( 98826684_98826739) del	GRCh37 (hg19)		NC_000004.11	Chr4	98,697,831 (-27, +28)	98,826,711 (-27, +28)
essv19007696	Submitted genomic		NC_000004.11:g.(98 697804_98697859)_( 98826684_98826739) del	GRCh37 (hg19)		NC_000004.11	Chr4	98,697,831 (-27, +28)	98,826,711 (-27, +28)

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.

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