A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6694779



Internal ID10110531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:965219..965472hg38UCSC Ensembl
Outerchr8:915219..915472hg19UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38254
hg19254
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2736097, esv2736098
Supporting Variants
SamplesSSM037
Known GenesERICH1-AS1
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)essv6694779
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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