A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv625n100



Internal ID20152241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:248546303..248655170hg38UCSC Ensembl
chr1:248709604..248818471hg19UCSC Ensembl
chr1:246776227..246885094hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38108868
hg19108868
hg18108868
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1004902, nsv1001184
Samples
Known GenesOR2T10, OR2T11, OR2T27, OR2T29, OR2T34, OR2T35
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv625n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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