A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6847502



Internal ID9899547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:47426803..47427176hg38UCSC Ensembl
Outerchr2:47653942..47654315hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38374
hg19374
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2720024
Supporting Variants
SamplesSSM086
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)essv6847502
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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