A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6913546



Internal ID10024512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:35033809..35034134hg38UCSC Ensembl
Outerchr20:33621612..33621937hg19UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg38326
hg19326
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722358
Supporting Variants
SamplesSSM015
Known GenesTRPC4AP
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)essv6913546
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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