A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3614770



Internal ID7001663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:119578335..119593796hg38UCSC Ensembl
Innerchr7:119578341..119593791hg38UCSC Ensembl
Outerchr7:119578330..119593802hg38UCSC Ensembl
chr7:119218389..119233850hg19UCSC Ensembl
Innerchr7:119218395..119233845hg19UCSC Ensembl
Outerchr7:119218384..119233856hg19UCSC Ensembl
Cytoband7q31.31
Allele length
AssemblyAllele length
hg3815462
hg1915462
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12944602, essv12944605, essv12944600, essv12944601, essv12944606, essv12944599, essv12944604, essv12944603
SamplesHG03280, HG03133, NA20412, NA19908, HG02554, HG02497, HG01988, NA19463
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3614770
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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