A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6749696



Internal ID10157005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:49076155..49076749hg38UCSC Ensembl
Outerchr12:49469938..49470532hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38595
hg19595
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745859
Supporting Variants
SamplesSSM056
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)essv6749696
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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