A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668063



Internal ID9587482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:20626125..20626296hg38UCSC Ensembl
chr12:20779059..20779230hg19UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg38172
hg19172
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6177973, essv6262652, essv5768146, essv6350029, essv6479148, essv5637638, essv6376799, essv6021080, essv5672864, essv5606868, essv5983626, essv6383870
SamplesNA18520, NA19404, NA18523, NA19093, HG01082, NA18517, HG01350, NA18856, NA19190, NA19374, NA19373, NA19116
Known GenesPDE3A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668063
Frequency
Sample Size1151
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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