A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746862



Internal ID10327832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:131440867..131441392hg38UCSC Ensembl
Outerchr12:131925412..131925937hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38526
hg19526
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6673313, essv6857362, essv6752647
SamplesSSM087, SSM057, SSM031
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)esv2746862
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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