A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13783975



Internal ID3785791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:46398950..46459775hg38UCSC Ensembl
chr10:47089972..47150813hg19UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg3860826
hg1960842
Variant TypeCNV gain
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3623118
Supporting Variants
SamplesNA19317
Known GenesHNRNPA1P33, LINC00842
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13783975
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