A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv200n27



Internal ID6315247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:52691103..52788928hg19UCSC Ensembl
chr12:50977370..51075195hg18UCSC Ensembl
chr12:50977370..51075195hg17UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnsv469389, nsv469385, nsv469388
Samples1798860306_A, NINDS_116, 1782681287_A
Known GenesKRT82, KRT83, KRT84, KRT85, KRT86
Method
Analysis
Platform
Comments
ReferenceItsara et al 2009
Pubmed ID19166990
Accession Number(s)dgv200n27
Frequency
Sample Size1557
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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