A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv309n100



Internal ID22786396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:121413668..121741169hg38UCSC Ensembl
chr1:121155528..121482967hg19UCSC Ensembl
chr1:120857051..121184490hg18UCSC Ensembl
Cytoband1p11.1
Allele length
AssemblyAllele length
hg38327502
hg19327440
hg18327440
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1012328, nsv1006003, nsv1010451, nsv1006475, nsv1007994, nsv1000866
Samples
Known GenesEMBP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv309n100
Frequency
Sample Size11257
Observed Gain27
Observed Loss0
Observed Complex0
Frequencyn/a


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