A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719928



Internal ID10303564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:37031911..37031964hg38UCSC Ensembl
Outerchr2:37259054..37259107hg19UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6955254
SamplesSSM026
Known GenesHEATR5B
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)esv2719928
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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