A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1398n100



Internal ID22787485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:19312553..19406885hg38UCSC Ensembl
chr12:19465487..19559819hg19UCSC Ensembl
chr12:19356754..19451086hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3894333
hg1994333
hg1894333
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1053487, nsv1049890, nsv1035703, nsv1036630, nsv1041480
Samples
Known GenesPLEKHA5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1398n100
Frequency
Sample Size11257
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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