A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3614712



Internal ID6654917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:117375410..117379151hg38UCSC Ensembl
Innerchr7:117375419..117379143hg38UCSC Ensembl
Outerchr7:117375402..117379160hg38UCSC Ensembl
chr7:117015464..117019205hg19UCSC Ensembl
Innerchr7:117015473..117019197hg19UCSC Ensembl
Outerchr7:117015456..117019214hg19UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg383742
hg193742
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12937365, essv12937366
SamplesNA19310, NA19474
Known GenesASZ1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3614712
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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