A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6964802



Internal ID10071792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:95074441..95074545hg38UCSC Ensembl
Outerchr8:96086669..96086773hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg38105
hg19105
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737321, esv2737320
Supporting Variants
SamplesSSM027
Known Genes
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)essv6964802
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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