A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6696174



Internal ID10107943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:81669563..81669960hg38UCSC Ensembl
Outerchr16:81703168..81703565hg19UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg38398
hg19398
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714789, esv2714787, esv2714785
Supporting Variants
SamplesSSM037
Known GenesCMIP
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)essv6696174
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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