A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2323n54



Internal ID18994499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6770036..6810403hg38UCSC Ensembl
chr12:6879202..6919569hg19UCSC Ensembl
chr12:6749463..6789830hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3840368
hg1940368
hg1840368
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv557260, nsv557259
Samples
Known GenesCD4, LAG3, PTMS
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2323n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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