A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6761362



Internal ID10168508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:69820331..69824698hg38UCSC Ensembl
Outerchr16:69854234..69858601hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg384368
hg194368
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714666
Supporting Variants
SamplesSSM061
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)essv6761362
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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