A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720293



Internal ID9954589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:85152496..85152718hg38UCSC Ensembl
Outerchr2:85379619..85379841hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38223
hg19223
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6844167, essv6750860, essv6879710
SamplesSSM057, SSM012, SSM085
Known GenesTCF7L1
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)esv2720293
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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