A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv612n100



Internal ID20152228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:248085794..248275150hg38UCSC Ensembl
chr1:248249096..248438452hg19UCSC Ensembl
chr1:246315719..246505075hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38189357
hg19189357
hg18189357
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv997981, nsv1006041
Samples
Known GenesOR2L13, OR2M1P, OR2M2, OR2M3, OR2M4, OR2M5, OR2T33
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv612n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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