A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6942156



Internal ID9703974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:47426796..47427203hg38UCSC Ensembl
Outerchr2:47653935..47654342hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38408
hg19408
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2720024
Supporting Variants
SamplesSSM023
Known GenesMSH2
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)essv6942156
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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