A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6799461



Internal ID10203366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:943419..943903hg38UCSC Ensembl
Outerchr8:893419..893903hg19UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38485
hg19485
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2736096
Supporting Variants
SamplesSSM072
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)essv6799461
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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