A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3609722



Internal ID6996642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:80797228..80804073hg38UCSC Ensembl
chr6:81506945..81513790hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg386846
hg196846
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12450861, essv12450862, essv12450863, essv12450859, essv12450860, essv12450864
SamplesNA18639, HG02870, HG03944, NA20796, HG02084, NA19773
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3609722
Frequency
Sample Size2504
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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