A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6783955



Internal ID10189162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:28590742..28833951hg38UCSC Ensembl
Outerchr15:28835888..29079097hg19UCSC Ensembl
Cytoband15q13.1
Allele length
AssemblyAllele length
hg38243210
hg19243210
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2749506
Supporting Variants
SamplesSSM068
Known GenesGOLGA8M, HERC2P9, LOC100289656, LOC646278, WHAMMP2
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)essv6783955
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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