A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660289



Internal ID9926394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:185910992..185991468hg38UCSC Ensembl
chr3:185628780..185709257hg19UCSC Ensembl
Cytoband3q27.2
Allele length
AssemblyAllele length
hg3880477
hg1980478
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5710948, essv5795677, essv6531764, essv5869516, essv6494799, essv5507872, essv5892425, essv5568613, essv5512441, essv5893829, essv6136454, essv6435999, essv5423959, essv6166059, essv6164509, essv5760859, essv5707398, essv6454165, essv6048280, essv5398642
SamplesHG00403, HG00524, HG01052, HG00179, HG01070, HG00122, NA19457, NA19313, HG00247, NA19722, HG00338, HG00629, HG00635, HG00404, HG00525, NA19440, HG00254, HG00237, HG00513, HG00342
Known GenesLOC344887, TRA2B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660289
Frequency
Sample Size1151
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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