A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12982065



Internal ID3751697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:139493880..139508650hg38UCSC Ensembl
chr7:139178626..139193396hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3814771
hg1914771
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615214
Supporting Variants
SamplesHG03382
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12982065
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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