A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746493



Internal ID9980777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:121791713..121792629hg38UCSC Ensembl
Outerchr12:122229619..122230535hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38917
hg19917
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6920268, essv6970883, essv6912679, essv6668248, essv6977334, essv6888049
SamplesSSM028, SSM029, SSM096, SSM017, SSM015, SSM030
Known GenesRHOF
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)esv2746493
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer