A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6672119



Internal ID10085590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:61052431..61052567hg38UCSC Ensembl
Outerchr8:61964990..61965126hg19UCSC Ensembl
Cytoband8q12.2
Allele length
AssemblyAllele length
hg38137
hg19137
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737074, esv2737075
Supporting Variants
SamplesSSM031
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)essv6672119
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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