A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714666



Internal ID10298302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:69820315..69824966hg38UCSC Ensembl
Outerchr16:69854218..69858869hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg384652
hg194652
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6777066, essv6911996, essv6820340, essv6752956, essv6738273, essv6761362, essv6755042, essv6741547, essv6763730, essv6735544, essv6665604, essv6755977
SamplesSSM008, SSM050, SSM002, SSM057, SSM058, SSM061, SSM029, SSM062, SSM001, SSM078, SSM052, SSM049
Known GenesWWP2
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2714666
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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