A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6886217



Internal ID10281256
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 StatusS
Merged Variantsesv2720131
Supporting Variants
SamplesSSM096
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)essv6886217
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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