A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15231501



Internal ID5233317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:43697364..43747461hg38UCSC Ensembl
chr15:43989562..44039659hg19UCSC Ensembl
Cytoband15q15.3
Allele length
AssemblyAllele length
hg3850098
hg1950098
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3636297
Supporting Variants
SamplesNA19383
Known GenesCATSPER2P1, CKMT1A, PDIA3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15231501
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