A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv637n100



Internal ID20152253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:248585881..248681796hg38UCSC Ensembl
chr1:248749182..248845097hg19UCSC Ensembl
chr1:246815805..246911720hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3895916
hg1995916
hg1895916
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1012686, nsv1008044, nsv1007327, nsv1002144, nsv1013340
Samples
Known GenesOR14I1, OR2T10, 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)dgv637n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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