A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6960266



Internal ID10062580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:81669316..81669370hg38UCSC Ensembl
Outerchr16:81702921..81702975hg19UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714786, esv2714783, esv2714785, esv2714782
Supporting Variants
SamplesSSM026
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)essv6960266
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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