A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738047



Internal ID9972386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:143981261..143981479hg38UCSC Ensembl
Outerchr8:145055429..145055647hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38219
hg19219
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6866469, essv6976147, essv6672276
SamplesSSM029, SSM089, SSM031
Known GenesPARP10
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)esv2738047
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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