A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6819717



Internal ID10219350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:49076170..49076776hg38UCSC Ensembl
Outerchr12:49469953..49470559hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38607
hg19607
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745859
Supporting Variants
SamplesSSM078
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)essv6819717
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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