A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1505n100



Internal ID22787592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:52452168..52492330hg38UCSC Ensembl
chr12:52845952..52886114hg19UCSC Ensembl
chr12:51132219..51172381hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3840163
hg1940163
hg1840163
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1054718, nsv1039888
Samples
Known GenesKRT6A, KRT6C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1505n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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