A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6977218



Internal ID10080974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:49076165..49076750hg38UCSC Ensembl
Outerchr12:49469948..49470533hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38586
hg19586
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745859
Supporting Variants
SamplesSSM029
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)essv6977218
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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