A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6852157



Internal ID9903736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:89341734..89342246hg38UCSC Ensembl
Outerchr16:89408142..89408654hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38513
hg19513
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715149, esv2715147
Supporting Variants
SamplesSSM086
Known GenesANKRD11
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)essv6852157
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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