A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6869166



Internal ID10265732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:123517924..123518200hg38UCSC Ensembl
Outerchr3:123236771..123237047hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg38277
hg19277
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2725841
Supporting Variants
SamplesSSM090
Known GenesPTPLB
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)essv6869166
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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