A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720131



Internal ID10303767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:61881427..61882233hg38UCSC Ensembl
Outerchr2:62108562..62109368hg19UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg38807
hg19807
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6917756, essv6886217
SamplesSSM096, SSM017
Known GenesCCT4
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)esv2720131
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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