A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6893678



Internal ID10287792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:170246249..170246988hg38UCSC Ensembl
Outerchr6:170555337..170556076hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38740
hg19740
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2733563, esv2733596
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)essv6893678
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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