A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv483n100



Internal ID22786570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:187666269..187804078hg38UCSC Ensembl
chr1:187635401..187773209hg19UCSC Ensembl
chr1:185902024..186039832hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg38137810
hg19137809
hg18137809
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1000114, nsv999763, nsv1000470, nsv1011007
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv483n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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