A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv609n100



Internal ID20152225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:247987730..248056075hg38UCSC Ensembl
chr1:248151032..248219377hg19UCSC Ensembl
chr1:246217655..246286000hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3868346
hg1968346
hg1868346
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv999696, nsv1000559, nsv1011974, nsv1008345
Samples
Known GenesOR2L13, OR2L1P, OR2L2, OR2L5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv609n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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