A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617130



Internal ID7004016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:48952072..48967618hg38UCSC Ensembl
chr8:49864631..49880177hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg3815547
hg1915547
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13194962, essv13194967, essv13194969, essv13194966, essv13194961, essv13194973, essv13194955, essv13194958, essv13194963, essv13194957, essv13194971, essv13194972, essv13194970, essv13194956, essv13194959, essv13194965, essv13194968, essv13194964, essv13194960
SamplesHG02658, NA19914, NA20274, NA19704, HG03297, HG03478, NA19131, HG02645, NA19238, HG02439, HG03291, NA19236, NA18856, HG02309, HG03024, NA19712, HG01894, HG03303, HG03129
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617130
Frequency
Sample Size2504
Observed Gain19
Observed Loss0
Observed Complex0
Frequencyn/a


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