A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746431



Internal ID9980715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:116710938..116713187hg38UCSC Ensembl
Outerchr12:117148743..117150992hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg382250
hg192250
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6809439
SamplesSSM075
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)esv2746431
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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