A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731760



Internal ID9966078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:29395429..29396786hg38UCSC Ensembl
Outerchr6:29363206..29364563hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg381358
hg191358
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6963626, essv6956908, essv6671035, essv6734297, essv6860741, essv6757352, essv6849029, essv6818145, essv6764945, essv6974683, essv6865517, essv6855139
SamplesSSM027, SSM086, SSM078, SSM088, SSM089, SSM031, SSM029, SSM063, SSM087, SSM026, SSM049, SSM059
Known GenesOR12D2
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)esv2731760
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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