A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746469



Internal ID10327439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:120389525..120389828hg38UCSC Ensembl
Outerchr12:120827328..120827631hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38304
hg19304
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6927991
SamplesSSM019
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)esv2746469
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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