A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606939



Internal ID6993874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:139441935..139447475hg38UCSC Ensembl
chr5:138777624..138783164hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg385541
hg195541
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12075976, essv12075972, essv12075978, essv12075985, essv12075984, essv12075982, essv12075987, essv12075979, essv12075983, essv12075981, essv12075973, essv12075986, essv12075977, essv12075975, essv12075974, essv12075980
SamplesNA18545, NA18597, HG00458, HG00464, NA19070, HG00653, NA18572, HG01029, HG00613, HG02391, HG02179, NA19085, HG00478, HG02032, HG01817, NA18983
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606939
Frequency
Sample Size2504
Observed Gain16
Observed Loss0
Observed Complex0
Frequencyn/a


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