A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1502n100



Internal ID20153118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:52285116..52351174hg38UCSC Ensembl
chr12:52678900..52744958hg19UCSC Ensembl
chr12:50965167..51031225hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3866059
hg1966059
hg1866059
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1046552, nsv1051834
Samples
Known GenesKRT81, KRT83, KRT86
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1502n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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