A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6976104



Internal ID10081976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:138882104..138882658hg38UCSC Ensembl
Outerchr8:139894347..139894901hg19UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38555
hg19555
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737701
Supporting Variants
SamplesSSM029
Known GenesCOL22A1
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)essv6976104
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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