A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608346



Internal ID6995276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:23159513..23163631hg38UCSC Ensembl
Innerchr6:23159513..23163631hg38UCSC Ensembl
Outerchr6:23159452..23163707hg38UCSC Ensembl
chr6:23159741..23163859hg19UCSC Ensembl
Innerchr6:23159741..23163859hg19UCSC Ensembl
Outerchr6:23159680..23163935hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg384119
hg194119
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12225835, essv12225859, essv12225846, essv12225847, essv12225839, essv12225863, essv12225845, essv12225841, essv12225838, essv12225848, essv12225850, essv12225862, essv12225842, essv12225834, essv12225852, essv12225836, essv12225854, essv12225851, essv12225853, essv12225832, essv12225843, essv12225864, essv12225831, essv12225858, essv12225855, essv12225856, essv12225866, essv12225861, essv12225844, essv12225849, essv12225860, essv12225840, essv12225833, essv12225865, essv12225857, essv12225837
SamplesNA19394, NA18502, HG03378, NA19378, HG03130, NA20294, HG03515, NA19098, NA18870, HG03436, HG02325, HG02882, HG02715, HG03343, NA19152, NA19327, HG02322, HG03472, HG02817, NA18912, HG03391, NA19160, HG03567, NA18517, HG02983, NA19331, HG02837, NA19360, NA19818, HG03565, HG03432, NA19438, NA19713, NA19711, HG03445, NA19430
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608346
Frequency
Sample Size2504
Observed Gain0
Observed Loss36
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer