A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746424



Internal ID10327394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:116492906..116493089hg38UCSC Ensembl
Outerchr12:116930711..116930894hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg38184
hg19184
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6783626, essv6673256
SamplesSSM031, SSM068
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)esv2746424
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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