A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6722452



Internal ID10133689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:236379206..236379918hg38UCSC Ensembl
Outerchr2:237287849..237288561hg19UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg38713
hg19713
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721704
Supporting Variants
SamplesSSM045
Known GenesIQCA1
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)essv6722452
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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