A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606929



Internal ID6993864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:138729832..138741180hg38UCSC Ensembl
Innerchr5:138730332..138740680hg38UCSC Ensembl
Outerchr5:138728832..138742180hg38UCSC Ensembl
chr5:138065521..138076869hg19UCSC Ensembl
Innerchr5:138066021..138076369hg19UCSC Ensembl
Outerchr5:138064521..138077869hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg3811349
hg1911349
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12075886, essv12075887, essv12075905, essv12075906, essv12075893, essv12075885, essv12075903, essv12075902, essv12075898, essv12075904, essv12075895, essv12075900, essv12075901, essv12075896, essv12075897, essv12075889, essv12075888, essv12075891, essv12075892, essv12075899, essv12075894, essv12075890
SamplesNA19700, NA19397, HG03126, HG03515, NA19446, NA19315, NA18923, NA19404, NA19036, HG03270, NA19462, NA19455, HG01989, HG03081, HG02501, HG02010, NA19435, NA19117, NA19213, NA19316, HG02284, NA19429
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606929
Frequency
Sample Size2504
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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