A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6750292



Internal ID9811914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:23705984..23768741hg38UCSC Ensembl
Outerchr20:23686621..23749378hg19UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg3862758
hg1962758
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722307, esv2722304, esv2722305, esv2722303
Supporting Variants
SamplesSSM056
Known GenesCST1
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)essv6750292
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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