A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746399



Internal ID10327369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:114064051..114064526hg38UCSC Ensembl
Outerchr12:114501856..114502331hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg38476
hg19476
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6709561, essv6846001, essv6681640, essv6857308
SamplesSSM087, SSM041, SSM033, SSM085
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)esv2746399
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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