A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302782



Internal ID15149730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:21060805..21060980hg38UCSC Ensembl
Innerchr2:21060892..21060892hg38UCSC Ensembl
Outerchr2:21060705..21061080hg38UCSC Ensembl
chr2:21283677..21283852hg19UCSC Ensembl
Innerchr2:21283764..21283764hg19UCSC Ensembl
Outerchr2:21283577..21283952hg19UCSC Ensembl
chr2:21137182..21137357hg18UCSC Ensembl
Innerchr2:21137269..21137269hg18UCSC Ensembl
Outerchr2:21137082..21137457hg18UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg38176
hg19176
hg18176
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7736841, essv7732375, essv7737699, essv7737020, essv7734425, essv7738912, essv7732638, essv7737892, essv7735548, essv7734749, essv7732355, essv7732463, essv7735810, essv7735081, essv7732433, essv7735855, essv7731791, essv7738178, essv7735769, essv7733939, essv7738404, essv7737466, essv7737830, essv7738054, essv7734170, essv7734881, essv7737239, essv7735045, essv7732298, essv7735609, essv7738461
SamplesNA18861, NA18592, NA18980, NA18561, NA18486, NA18545, NA18526, NA18519, NA18960, NA18571, NA19138, NA19137, NA19172, NA18638, NA18951, NA18605, NA18907, NA18566, NA18499, NA18856, NA19257, NA19225, NA12144, NA18608, NA19147, NA18564, NA18609, NA18505, NA19129, NA18511, NA18522
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302782
Frequency
Sample Size185
Observed Gain31
Observed Loss0
Observed Complex0
Frequencyn/a


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