A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606839



Internal ID6993774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:134059720..134062996hg38UCSC Ensembl
Innerchr5:134059720..134062996hg38UCSC Ensembl
Outerchr5:134059488..134063328hg38UCSC Ensembl
chr5:133395411..133398687hg19UCSC Ensembl
Innerchr5:133395411..133398687hg19UCSC Ensembl
Outerchr5:133395179..133399019hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg383277
hg193277
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12066500, essv12066487, essv12066483, essv12066503, essv12066475, essv12066468, essv12066499, essv12066482, essv12066471, essv12066466, essv12066501, essv12066492, essv12066477, essv12066488, essv12066495, essv12066465, essv12066494, essv12066498, essv12066481, essv12066478, essv12066464, essv12066467, essv12066462, essv12066463, essv12066489, essv12066476, essv12066493, essv12066497, essv12066484, essv12066470, essv12066472, essv12066490, essv12066473, essv12066480, essv12066479, essv12066486, essv12066491, essv12066469, essv12066474, essv12066502, essv12066485, essv12066496
SamplesHG01303, NA12286, HG01066, HG01465, HG00103, NA20864, NA20346, HG00641, HG01354, HG01393, HG01455, NA19651, HG00232, HG01525, NA20753, HG01256, HG00290, HG01501, HG01669, HG00101, NA20760, HG02221, HG01777, HG01161, HG00331, HG00321, HG00157, HG01705, NA12144, HG01257, HG02089, HG00136, NA20792, HG01489, HG00259, HG02230, HG03684, HG02239, HG01775, HG01111, HG01695, HG01507
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606839
Frequency
Sample Size2504
Observed Gain0
Observed Loss42
Observed Complex0
Frequencyn/a


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