A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12768686



Internal ID2764565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:49886695..49910736hg38UCSC Ensembl
chr7:49926291..49950332hg19UCSC Ensembl
Cytoband7p12.2
Allele length
AssemblyAllele length
hg3824042
hg1924042
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613116
Supporting Variants
SamplesHG02433
Known GenesVWC2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12768686
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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