A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737699



Internal ID10321335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:138813506..138813692hg38UCSC Ensembl
Outerchr8:139825749..139825935hg19UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38187
hg19187
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6881942, essv6827133, essv6672224, essv6723942
SamplesSSM045, SSM094, SSM031, SSM080
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)esv2737699
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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