A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6859545



Internal ID9913912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:53962225..55281323hg38UCSC Ensembl
Outerchr2:54189362..55508459hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg381319099
hg191319098
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2720078
Supporting Variants
SamplesSSM088
Known GenesACYP2, C2orf73, CLHC1, EML6, MIR4426, MTIF2, PSME4, RPL23AP32, RPS27A, RTN4, SPTBN1, TSPYL6
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)essv6859545
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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