A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720542



Internal ID9954838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:112776522..112776799hg38UCSC Ensembl
Outerchr2:113534099..113534376hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6832914
SamplesSSM082
Known GenesIL1A
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)esv2720542
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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