A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719816



Internal ID9954110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:24229030..24229102hg38UCSC Ensembl
Outerchr2:24451899..24451971hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6669422
SamplesSSM031
Known GenesITSN2
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)esv2719816
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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