A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6976042



Internal ID10082033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:106519514..106520756hg38UCSC Ensembl
Outerchr8:107531742..107532984hg19UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg381243
hg191243
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737402
Supporting Variants
SamplesSSM029
Known GenesOXR1
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)essv6976042
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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