A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733019



Internal ID10316655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:158892788..158897619hg38UCSC Ensembl
Outerchr6:159313820..159318651hg19UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg384832
hg194832
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6963817, essv6915168, essv6762728
SamplesSSM062, SSM001, SSM016
Known GenesC6orf99
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)esv2733019
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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