A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6846624



Internal ID10245443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:35581483..35585169hg38UCSC Ensembl
Outerchr20:34169405..34173091hg19UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg383687
hg193687
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722366
Supporting Variants
SamplesSSM085
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)essv6846624
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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