A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737749



Internal ID10321385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:140195345..140196377hg38UCSC Ensembl
Outerchr8:141205444..141206476hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg381033
hg191033
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6966952, essv6964868, essv6731563, essv6771524
SamplesSSM027, SSM065, SSM047, SSM004
Known GenesTRAPPC9
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)esv2737749
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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