A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv584n100



Internal ID20152200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:233567984..233618731hg38UCSC Ensembl
chr1:233703730..233754477hg19UCSC Ensembl
chr1:231770353..231821100hg18UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg3850748
hg1950748
hg1850748
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv998926, nsv1006880, nsv1008006
Samples
Known GenesKCNK1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv584n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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