A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731761



Internal ID9966079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:29396137..29396259hg38UCSC Ensembl
Outerchr6:29363914..29364036hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg38123
hg19123
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6849029, essv6974683, essv6671035, essv6860741, essv6963626, essv6855139, essv6865517, essv6956908
SamplesSSM027, SSM087, SSM088, SSM029, SSM026, SSM089, SSM031, SSM086
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)esv2731761
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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