A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6666229



Internal ID9733070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:23774288..23775455hg38UCSC Ensembl
Outerchr20:23754925..23756092hg19UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg381168
hg191168
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722310, esv2722308, esv2722305, esv2722309, esv2722303
Supporting Variants
SamplesSSM029
Known Genes
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)essv6666229
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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