A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6667557



Internal ID10084610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:32708800..32709249hg38UCSC Ensembl
Outerchr6:32676577..32677026hg19UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg38450
hg19450
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731866, esv2731868, esv2731869, esv2731864
Supporting Variants
SamplesSSM030
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)essv6667557
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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