A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6960769



Internal ID9716348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:4224551..4224622hg38UCSC Ensembl
Outerchr20:4205198..4205269hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722129, esv2722127
Supporting Variants
SamplesSSM026
Known GenesADRA1D
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)essv6960769
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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