A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746278



Internal ID10327248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:101340921..101341070hg38UCSC Ensembl
Outerchr12:101734699..101734848hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg38150
hg19150
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6695608, essv6827768
SamplesSSM080, SSM037
Known GenesUTP20
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)esv2746278
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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