A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746109



Internal ID10327079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:78804733..78804961hg38UCSC Ensembl
Outerchr12:79198513..79198741hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg38229
hg19229
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6965834, essv6787798, essv6732167, essv6927965, essv6867215, essv6866076
SamplesSSM027, SSM011, SSM047, SSM069, SSM089, SSM019
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)esv2746109
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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