A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv615n100



Internal ID20152231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:248432380..248550678hg38UCSC Ensembl
chr1:248595681..248713979hg19UCSC Ensembl
chr1:246662304..246780602hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38118299
hg19118299
hg18118299
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1001661, nsv1013521
Samples
Known GenesOR2G6, OR2T2, OR2T3, OR2T5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv615n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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