A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3483n100



Internal ID22789570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:24163265..24413936hg38UCSC Ensembl
chr19:24346067..24596738hg19UCSC Ensembl
chr19:24137907..24388578hg18UCSC Ensembl
Cytoband19p11
Allele length
AssemblyAllele length
hg38250672
hg19250672
hg18250672
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1066250, nsv1057292, nsv1055774, nsv1063458, nsv1064304, nsv1059342, nsv1061973, nsv1058203, nsv1058057
Samples
Known GenesHAVCR1P1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3483n100
Frequency
Sample Size11257
Observed Gain28
Observed Loss0
Observed Complex0
Frequencyn/a


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