A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12937365



Internal ID2939181
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614712
Supporting Variants
SamplesNA19310
Known GenesASZ1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12937365
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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