A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302793



Internal ID15149741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:29622610..29622669hg38UCSC Ensembl
Innerchr19:29622639..29622639hg38UCSC Ensembl
Outerchr19:29622510..29622769hg38UCSC Ensembl
chr19:30113517..30113576hg19UCSC Ensembl
Innerchr19:30113546..30113546hg19UCSC Ensembl
Outerchr19:30113417..30113676hg19UCSC Ensembl
chr19:34805357..34805416hg18UCSC Ensembl
Innerchr19:34805386..34805386hg18UCSC Ensembl
Outerchr19:34805257..34805516hg18UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg3860
hg1960
hg1860
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2004e59
Supporting Variantsessv7737454, essv7735615, essv7738618, essv7738517, essv7731928, essv7738869, essv7735924, essv7735002, essv7736895, essv7733906, essv7734630, essv7733107, essv7733694, essv7737657, essv7734729, essv7738052, essv7735540, essv7734219, essv7733597, essv7736138, essv7732173, essv7736810, essv7734319, essv7733239, essv7733440, essv7738339, essv7735798, essv7732876, essv7737721, essv7732126, essv7736459, essv7732280
SamplesNA18861, NA10851, NA12414, NA18603, NA18545, NA12004, NA18870, NA07357, NA18944, NA19138, NA18949, NA19137, NA19238, NA19239, NA12828, NA18951, NA12489, NA12878, NA18948, NA18907, NA19114, NA12144, NA18523, NA12043, NA11881, NA18952, NA19240, NA18501, NA19093, NA18505, NA19129, NA07000
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302793
Frequency
Sample Size185
Observed Gain32
Observed Loss0
Observed Complex0
Frequencyn/a


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