A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv312n100



Internal ID20151928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:144950111..145023143hg38UCSC Ensembl
chr1:143982530..144058996hg19UCSC Ensembl
chr1:142693888..142770353hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3873033
hg1976467
hg1876466
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1012942, nsv1010411
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)dgv312n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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