A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738076



Internal ID9972415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:144544796..144545318hg38UCSC Ensembl
Outerchr8:145770180..145770702hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38523
hg19523
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6805984, essv6767376
SamplesSSM008, SSM074
Known GenesARHGAP39
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)esv2738076
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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