A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719748



Internal ID10303384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:17627906..17628837hg38UCSC Ensembl
Outerchr2:17809173..17810104hg19UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg38932
hg19932
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6896037
SamplesSSM099
Known GenesVSNL1
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)esv2719748
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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