A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6712438



Internal ID10124968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:42072744..42073036hg38UCSC Ensembl
Outerchr8:41930262..41930554hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg38293
hg19293
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2736934
Supporting Variants
SamplesSSM042
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)essv6712438
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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