A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731763



Internal ID10315399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:29397339..29417995hg38UCSC Ensembl
Outerchr6:29365116..29385772hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg3820657
hg1920657
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6782118, essv6959929, essv6844838, essv6715436, essv6926721, essv6794590, essv6734298, essv6918678, essv6951810, essv6778115, essv6759974, essv6694093, essv6893442, essv6922994, essv6757354, essv6969287, essv6798765, essv6837360, essv6869624, essv6854909
SamplesSSM059, SSM083, SSM071, SSM011, SSM028, SSM090, SSM018, SSM061, SSM017, SSM019, SSM067, SSM085, SSM068, SSM072, SSM037, SSM025, SSM004, SSM043, SSM098, SSM049
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)esv2731763
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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