A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746632



Internal ID10327602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:128188707..128189982hg38UCSC Ensembl
Outerchr12:128673252..128674527hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg381276
hg191276
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6831380, essv6732212, essv6706283, essv6673280, essv6691677, essv6949169, essv6681655, essv6800303, essv6977358, essv6758285, essv6953309, essv6720771
SamplesSSM059, SSM036, SSM024, SSM047, SSM029, SSM031, SSM044, SSM033, SSM081, SSM040, SSM072, SSM025
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)esv2746632
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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