A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6938614



Internal ID10046013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:165081477..165083899hg38UCSC Ensembl
Outerchr4:166002629..166005051hg19UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg382423
hg192423
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2728686
Supporting Variants
SamplesSSM022
Known GenesTMEM192
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)essv6938614
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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