A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746268



Internal ID9980552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:99052437..99052754hg38UCSC Ensembl
Outerchr12:99446215..99446532hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6713050, essv6809427, essv6800274, essv6783613, essv6867240, essv6924406, essv6796092, essv6827767
SamplesSSM042, SSM089, SSM072, SSM071, SSM068, SSM075, SSM018, SSM080
Known GenesANKS1B
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)esv2746268
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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