A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6958099



Internal ID9719974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:25469648..25469752hg38UCSC Ensembl
Outerchr8:25327164..25327268hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg38105
hg19105
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2736778, esv2736777
Supporting Variants
SamplesSSM026
Known GenesCDCA2
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)essv6958099
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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