A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668764



Internal ID9934869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:196222463..196224374hg38UCSC Ensembl
Outerchr3:196222306..196224527hg38UCSC Ensembl
Innerchr3:195949334..195951245hg19UCSC Ensembl
Outerchr3:195949177..195951398hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg382222
hg192222
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5960637, essv5804422, essv6588832, essv5665813, essv6288198, essv5573923, essv6280250, essv6003783, essv6411027, essv5711502, essv5464970, essv6534151, essv6351848, essv5799383, essv6585219, essv6065747
SamplesNA20588, NA12340, NA20796, HG01167, NA20774, NA12283, NA12889, HG00159, NA10847, NA20760, HG00124, NA20801, NA20516, NA12763, HG00259, HG00131
Known GenesSLC51A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668764
Frequency
Sample Size1151
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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