A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605838



Internal ID6992775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:95706469..95713312hg38UCSC Ensembl
chr5:95042173..95049016hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg386844
hg196844
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11983065, essv11983068, essv11983071, essv11983064, essv11983067, essv11983077, essv11983074, essv11983066, essv11983075, essv11983072, essv11983069, essv11983070, essv11983076, essv11983073
SamplesHG02298, NA18980, HG01486, NA19678, HG01083, HG01069, HG01284, HG01405, HG02180, HG01049, HG01390, NA18610, HG01269, NA18562
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605838
Frequency
Sample Size2504
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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