A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6816183



Internal ID10218046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:1580387..1613519hg38UCSC Ensembl
Outerchr20:1561033..1594165hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3833133
hg1933133
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722072, esv2722071
Supporting Variants
SamplesSSM077
Known GenesSIRPB1
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)essv6816183
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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