A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv614n100



Internal ID22786701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:248159014..248263526hg38UCSC Ensembl
chr1:248322316..248426828hg19UCSC Ensembl
chr1:246388939..246493451hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38104513
hg19104513
hg18104513
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv997302, nsv997866, nsv1005709
Samples
Known GenesOR2M2, OR2M3, OR2M4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv614n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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