A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6932856



Internal ID9694894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:48431404..48431602hg38UCSC Ensembl
Outerchr20:47060146..47060344hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg38199
hg19199
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722479, esv2722468, esv2722476
Supporting Variants
SamplesSSM020
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)essv6932856
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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