A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1504n100



Internal ID20153120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:52423017..52454608hg38UCSC Ensembl
chr12:52816801..52848392hg19UCSC Ensembl
chr12:51103068..51134659hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3831592
hg1931592
hg1831592
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1053436, nsv1036768
Samples
Known GenesKRT6B, KRT75
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1504n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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