A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302753



Internal ID14803015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123945988..123946040hg38UCSC Ensembl
Innerchr12:123946014..123946014hg38UCSC Ensembl
Outerchr12:123945888..123946140hg38UCSC Ensembl
chr12:124430535..124430587hg19UCSC Ensembl
Innerchr12:124430561..124430561hg19UCSC Ensembl
Outerchr12:124430435..124430687hg19UCSC Ensembl
chr12:122996488..122996540hg18UCSC Ensembl
Innerchr12:122996514..122996514hg18UCSC Ensembl
Outerchr12:122996388..122996640hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3853
hg1953
hg1853
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7739263, essv7734858, essv7733020, essv7736078, essv7732019, essv7733932
SamplesNA18870, NA18501, NA19093, NA11931, NA19138, NA19225
Known GenesCCDC92
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302753
Frequency
Sample Size185
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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