A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6911996



Internal ID9985058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:69820317..69824937hg38UCSC Ensembl
Outerchr16:69854220..69858840hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg384621
hg194621
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714666
Supporting Variants
SamplesSSM002
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)essv6911996
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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