A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6893675



Internal ID10287790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:170168918..170171405hg38UCSC Ensembl
Outerchr6:170484142..170486629hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg382488
hg192488
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2733576, esv2733563
Supporting Variants
SamplesSSM098
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)essv6893675
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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