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dbVar

Database of genomic structural variation

esv4011095

Organism: Homo sapiens

Study:estd236 (Kurtas et al. 2018)
Variant Type:complex chromosomal rearrangement
Method Type:Oligo aCGH, PCR, Sequencing
Submitted on:GRCh37 (hg19)

Variant Calls:3
Validation:Not tested
Clinical Assertions: No
Region Size:4,298

Publication(s):Kurtas et al. 2018

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: 136 SVs from 27 studies. See in: genome view

Remapped(Score: Perfect):132,906,996-132,911,293

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop	strand
esv4011095	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	132,906,996	132,911,293	+
esv4011095	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	132,591,756	132,596,053	+

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Zygosity	Other Calls in this Sample and Study
essv26067123	interchromosomal translocation	1960	Oligo aCGH, PCR, Sequencing	Manual observation, Merging, Read depth and paired-end mapping	2	Heterozygous	7
essv26067110	interchromosomal translocation	1960	Oligo aCGH, PCR, Sequencing	Manual observation, Merging, Read depth and paired-end mapping	2	Heterozygous	7
essv26067136	interchromosomal translocation	1960	Oligo aCGH, PCR, Sequencing	Manual observation, Merging, Read depth and paired-end mapping	2	Heterozygous	7

Variant Call Placement Information

Variant Call ID	Placement Type	Score	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop	strand
essv26067123	Remapped	Perfect	GRCh38.p12	First Pass	NC_000006.12	Chr6	111,022,714	111,022,714	+
essv26067110	Remapped	Perfect	GRCh38.p12	First Pass	NC_000006.12	Chr6	111,028,785	111,028,785	+
essv26067136	Remapped	Perfect	GRCh38.p12	First Pass	NC_000006.12	Chr6	111,028,787	111,028,787	+
essv26067136	Remapped	Perfect	GRCh38.p12	First Pass	NC_000007.14	Chr7	132,906,996	132,906,996	+
essv26067123	Remapped	Perfect	GRCh38.p12	First Pass	NC_000007.14	Chr7	132,907,016	132,907,016	+
essv26067110	Remapped	Perfect	GRCh38.p12	First Pass	NC_000007.14	Chr7	132,911,293	132,911,293	+
essv26067123	Submitted genomic		GRCh37 (hg19)		NC_000006.11	Chr6	111,343,917	111,343,917	+
essv26067110	Submitted genomic		GRCh37 (hg19)		NC_000006.11	Chr6	111,349,988	111,349,988	+
essv26067136	Submitted genomic		GRCh37 (hg19)		NC_000006.11	Chr6	111,349,990	111,349,990	+
essv26067136	Submitted genomic		GRCh37 (hg19)		NC_000007.13	Chr7	132,591,756	132,591,756	+
essv26067123	Submitted genomic		GRCh37 (hg19)		NC_000007.13	Chr7	132,591,776	132,591,776	+
essv26067110	Submitted genomic		GRCh37 (hg19)		NC_000007.13	Chr7	132,596,053	132,596,053	+

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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