A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302926



Internal ID15149874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:124443022..124443086hg38UCSC Ensembl
Innerchr11:124443054..124443054hg38UCSC Ensembl
Outerchr11:124442922..124443186hg38UCSC Ensembl
chr11:124312918..124312982hg19UCSC Ensembl
Innerchr11:124312950..124312950hg19UCSC Ensembl
Outerchr11:124312818..124313082hg19UCSC Ensembl
chr11:123818128..123818192hg18UCSC Ensembl
Innerchr11:123818160..123818160hg18UCSC Ensembl
Outerchr11:123818028..123818292hg18UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg3865
hg1965
hg1865
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7732146, essv7733867, essv7737605, essv7735435, essv7735503, essv7735234, essv7737125, essv7733739, essv7733236, essv7736584, essv7733825, essv7732770, essv7738104, essv7732014, essv7732271, essv7737321, essv7732077, essv7737964, essv7736259, essv7739037, essv7733363, essv7734445
SamplesNA18861, NA18508, NA18545, NA12004, NA18870, NA07357, NA19005, NA18940, NA18558, NA18547, NA18916, NA19138, NA12044, NA18638, NA19210, NA18956, NA19114, NA11894, NA18858, NA18945, NA18505, NA12006
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302926
Frequency
Sample Size185
Observed Gain22
Observed Loss0
Observed Complex0
Frequencyn/a


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