A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664501



Internal ID9930606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:171534137..171536247hg38UCSC Ensembl
chr3:171251926..171254036hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg382111
hg192111
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5839578, essv6420173, essv5670658, essv5746457, essv5873389, essv6255907, essv5771649, essv5740434
SamplesHG00247, NA06984, HG00232, HG00268, NA07051, HG00339, NA19248, NA20807
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664501
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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