A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736269



Internal ID10319905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:1539415..1539866hg38UCSC Ensembl
Outerchr8:1487581..1488032hg19UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38452
hg19452
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6887455, essv6834296
SamplesSSM096, SSM082
Known GenesDLGAP2
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)esv2736269
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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