A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746396



Internal ID10327366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:114063841..114064050hg38UCSC Ensembl
Outerchr12:114501646..114501855hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg38210
hg19210
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6970872, essv6927983
SamplesSSM028, SSM019
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)esv2746396
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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