A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737944



Internal ID10321580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:142990967..142991333hg38UCSC Ensembl
Outerchr8:144072384..144072750hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38367
hg19367
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6944304
SamplesSSM023
Known GenesLOC100133669
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)esv2737944
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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