A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720154



Internal ID9954450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:65342191..65342467hg38UCSC Ensembl
Outerchr2:65569325..65569601hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg38277
hg19277
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6801857
SamplesSSM073
Known GenesSPRED2
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)esv2720154
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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