A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6814879



Internal ID10216872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:26078155..26078554hg38UCSC Ensembl
Outerchr8:25935671..25936070hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg38400
hg19400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2736787
Supporting Variants
SamplesSSM077
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)essv6814879
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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