A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv636n100



Internal ID20152252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:248585881..248664923hg38UCSC Ensembl
chr1:248749182..248828224hg19UCSC Ensembl
chr1:246815805..246894847hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3879043
hg1979043
hg1879043
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1015053, nsv999686, nsv1012440, nsv999257
Samples
Known GenesOR2T10, OR2T11, OR2T27, OR2T35
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv636n100
Frequency
Sample Size29084
Observed Gain4
Observed Loss46
Observed Complex0
Frequencyn/a


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