A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605579



Internal ID6992517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:80606303..80608811hg38UCSC Ensembl
Innerchr5:80606303..80608811hg38UCSC Ensembl
Outerchr5:80605938..80609089hg38UCSC Ensembl
chr5:79902122..79904630hg19UCSC Ensembl
Innerchr5:79902122..79904630hg19UCSC Ensembl
Outerchr5:79901757..79904908hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg382509
hg192509
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11955793, essv11955800, essv11955798, essv11955789, essv11955773, essv11955769, essv11955784, essv11955799, essv11955774, essv11955782, essv11955791, essv11955762, essv11955776, essv11955771, essv11955797, essv11955796, essv11955781, essv11955764, essv11955802, essv11955779, essv11955777, essv11955786, essv11955783, essv11955785, essv11955792, essv11955801, essv11955765, essv11955770, essv11955780, essv11955794, essv11955787, essv11955768, essv11955778, essv11955766, essv11955763, essv11955795, essv11955767, essv11955790, essv11955788, essv11955803, essv11955772, essv11955775
SamplesHG04212, NA19028, NA19794, NA19466, HG04060, HG03687, HG03517, NA20802, HG02891, HG03455, NA20332, HG04001, NA20359, HG03133, NA20796, HG03808, HG00266, HG02322, HG04019, NA20519, HG03159, HG02470, NA19461, HG02429, NA20299, HG00373, HG04173, NA20881, HG03898, NA21087, NA19473, NA19331, NA19467, HG02694, HG03442, HG00288, HG03060, HG03716, HG03351, HG03470, HG02947, HG01695
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605579
Frequency
Sample Size2504
Observed Gain0
Observed Loss42
Observed Complex0
Frequencyn/a


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