A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746377



Internal ID9980661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:112826351..112827144hg38UCSC Ensembl
Outerchr12:113264156..113264949hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg38794
hg19794
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6758278
SamplesSSM059
Known GenesRPH3A
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)esv2746377
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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