A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6688997



Internal ID10102245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:57067658..57094052hg38UCSC Ensembl
Outerchr20:55642714..55669108hg19UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg3826395
hg1926395
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722589
Supporting Variants
SamplesSSM035
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)essv6688997
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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