A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv629n100



Internal ID20152245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:248568732..248633900hg38UCSC Ensembl
chr1:248732033..248797201hg19UCSC Ensembl
chr1:246798656..246863824hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3865169
hg1965169
hg1865169
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1011848, nsv1009414
Samples
Known GenesOR2T10, OR2T11, OR2T34
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv629n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss56
Observed Complex0
Frequencyn/a


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