A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639943



Internal ID7026721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:10858338..10863298hg38UCSC Ensembl
Innerchr17:10858339..10863298hg38UCSC Ensembl
Outerchr17:10858338..10863299hg38UCSC Ensembl
chr17:10761655..10766615hg19UCSC Ensembl
Innerchr17:10761656..10766615hg19UCSC Ensembl
Outerchr17:10761655..10766616hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg384961
hg194961
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15610875, essv15610879, essv15610909, essv15610912, essv15610886, essv15610891, essv15610885, essv15610896, essv15610906, essv15610907, essv15610894, essv15610893, essv15610908, essv15610888, essv15610880, essv15610904, essv15610905, essv15610890, essv15610898, essv15610899, essv15610883, essv15610902, essv15610895, essv15610884, essv15610900, essv15610876, essv15610874, essv15610877, essv15610882, essv15610881, essv15610878, essv15610892, essv15610887, essv15610897, essv15610889, essv15610901, essv15610913, essv15610914, essv15610903, essv15610910, essv15610911
SamplesHG03121, HG02702, NA19350, NA20294, HG03455, HG02624, NA18504, NA19443, NA18510, HG02769, HG03572, HG02485, HG02541, HG03479, NA19904, HG01242, HG02981, HG02703, HG02885, HG03195, NA19456, NA19437, NA19913, HG02508, HG02976, HG01092, HG01241, NA19113, HG02884, NA19257, HG02594, HG02772, NA19017, HG03240, HG02759, HG03259, NA19467, HG03442, HG02053, NA19116, HG03196
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639943
Frequency
Sample Size2504
Observed Gain0
Observed Loss41
Observed Complex0
Frequencyn/a


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