A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12435629



Internal ID5086729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:76701612..76794281hg38UCSC Ensembl
chr6:77411329..77503998hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg3892670
hg1992670
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609612
Supporting Variants
SamplesNA18546
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12435629
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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