A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3614697



Internal ID6654902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:116532538..116534378hg38UCSC Ensembl
Innerchr7:116532580..116534336hg38UCSC Ensembl
Outerchr7:116532496..116534420hg38UCSC Ensembl
chr7:116172592..116174432hg19UCSC Ensembl
Innerchr7:116172634..116174390hg19UCSC Ensembl
Outerchr7:116172550..116174474hg19UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg381841
hg191841
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12934974
SamplesHG03304
Known GenesCAV1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3614697
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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