A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6885147



Internal ID10279939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:131392554..131393317hg38UCSC Ensembl
Outerchr12:131877099..131877862hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38764
hg19764
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746835, esv2746858
Supporting Variants
SamplesSSM095
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)essv6885147
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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