A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2742266



Internal ID10296382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:7842500..7958746hg38UCSC Ensembl
Outerchr12:7995096..8111342hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38116247
hg19116247
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv167e201
Supporting Variantsessv6842405
SamplesSSM084
Known GenesSLC2A14, SLC2A3
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)esv2742266
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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