A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv593n100



Internal ID22786680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:238486445..238623480hg38UCSC Ensembl
chr1:238649745..238786780hg19UCSC Ensembl
chr1:236716368..236853403hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38137036
hg19137036
hg18137036
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1005647, nsv1010974, nsv1007817, nsv1013312, nsv1008492, nsv997755, nsv1007032, nsv1014823, nsv1014562, nsv1014501, nsv1013766, nsv1006459
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)dgv593n100
Frequency
Sample Size11257
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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