A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv587n100



Internal ID20152203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:235445295..235531886hg38UCSC Ensembl
chr1:235608610..235695186hg19UCSC Ensembl
chr1:233675233..233761809hg18UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg3886592
hg1986577
hg1886577
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1000657, nsv1001957
Samples
Known GenesB3GALNT2, TBCE
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv587n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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