A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6884662



Internal ID10279502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:25773444..25773619hg38UCSC Ensembl
Outerchr8:25630960..25631135hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg38176
hg19176
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2736783
Supporting Variants
SamplesSSM095
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)essv6884662
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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