A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3614826



Internal ID7001719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:121580557..121586387hg38UCSC Ensembl
Innerchr7:121580557..121586387hg38UCSC Ensembl
Outerchr7:121580057..121586887hg38UCSC Ensembl
chr7:121220611..121226441hg19UCSC Ensembl
Innerchr7:121220611..121226441hg19UCSC Ensembl
Outerchr7:121220111..121226941hg19UCSC Ensembl
Cytoband7q31.32
Allele length
AssemblyAllele length
hg385831
hg195831
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12948204, essv12948202, essv12948201, essv12948203, essv12948205, essv12948206
SamplesNA19448, HG02571, NA19403, HG02309, NA19225, NA20348
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3614826
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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