A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13984598



Internal ID6743268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:133327691..133373131hg38UCSC Ensembl
chr10:135141195..135186635hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg3845441
hg1945441
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3625043
Supporting Variants
SamplesNA20862
Known GenesCALY, ECHS1, FUOM, MIR3944, PRAP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13984598
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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