A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303101



Internal ID15150049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:47940895..47941312hg38UCSC Ensembl
Innerchr12:47940995..47941212hg38UCSC Ensembl
Outerchr12:47940795..47941412hg38UCSC Ensembl
chr12:48334678..48335095hg19UCSC Ensembl
Innerchr12:48334778..48334995hg19UCSC Ensembl
Outerchr12:48334578..48335195hg19UCSC Ensembl
chr12:46620945..46621362hg18UCSC Ensembl
Innerchr12:46621045..46621262hg18UCSC Ensembl
Outerchr12:46620845..46621462hg18UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg38418
hg19418
hg18418
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv819e59
Supporting Variantsessv7738639, essv7738186, essv7735034, essv7731756, essv7735209, essv7734257, essv7734950
SamplesNA18980, NA12045, NA12750, NA11992, NA12878, NA18576, NA07037
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303101
Frequency
Sample Size185
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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