A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv594n100



Internal ID20152210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:239192375..239401382hg38UCSC Ensembl
chr1:239355675..239564682hg19UCSC Ensembl
chr1:237422298..237631305hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38209008
hg19209008
hg18209008
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1013763, nsv1001152, nsv1002418
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv594n100
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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