A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6771433



Internal ID10177772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:26213204..26213685hg38UCSC Ensembl
Outerchr8:26070720..26071201hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg38482
hg19482
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2736788
Supporting Variants
SamplesSSM065
Known Genes
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)essv6771433
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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