A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6863446



Internal ID9910402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:23748810..23824919hg38UCSC Ensembl
Outerchr20:23729447..23805556hg19UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg3876110
hg1976110
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722308, esv2722305, esv2722309
Supporting Variants
SamplesSSM088
Known GenesCST1, CST2
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)essv6863446
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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