A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2630n54



Internal ID20136054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:52287930..52395144hg38UCSC Ensembl
chr12:52681714..52788928hg19UCSC Ensembl
chr12:50967981..51075195hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38107215
hg19107215
hg18107215
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv558909, nsv558901, nsv558908, nsv558907, nsv558927, nsv558903, nsv558911, nsv558902, nsv558905, nsv558910, nsv558912, nsv558906, nsv558914
Samples1798860306_A, NINDS_116, 1782681287_A
Known GenesKRT81, KRT82, KRT83, KRT84, KRT85, KRT86
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2630n54
Frequency
Sample Size17421
Observed Gain17
Observed Loss0
Observed Complex0
Frequencyn/a


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