A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668341



Internal ID9934446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:57891851..57893069hg38UCSC Ensembl
Outerchr3:57891814..57893119hg38UCSC Ensembl
Innerchr3:57877578..57878796hg19UCSC Ensembl
Outerchr3:57877541..57878846hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg381306
hg191306
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6394460, essv5520309, essv6151927, essv5973608, essv5978031, essv6052622, essv6496803, essv5994283, essv5550609, essv6380639, essv5941744, essv6078076, essv6528334
SamplesNA18592, NA18561, NA18526, NA18560, NA18617, HG00443, HG00653, HG00584, HG00463, NA18570, NA18945, HG00478, NA19004
Known GenesSLMAP
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668341
Frequency
Sample Size1151
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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