A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6925239



Internal ID10032834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:60087281..60087974hg38UCSC Ensembl
Outerchr20:58662336..58663029hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38694
hg19694
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722642, esv2722643
Supporting Variants
SamplesSSM018
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)essv6925239
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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