A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2911n54



Internal ID20136335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:119988914..119989942hg38UCSC Ensembl
chr12:120426718..120427746hg19UCSC Ensembl
chr12:118911101..118912129hg18UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg381029
hg191029
hg181029
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv560416, nsv560426, nsv560429, nsv560425
Samples
Known GenesCCDC64
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2911n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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