A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15679109



Internal ID5680925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:42940234..42955314hg38UCSC Ensembl
chr17:41092251..41107331hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3815081
hg1915081
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640616
Supporting Variants
SamplesNA20582
Known GenesAARSD1, PTGES3L-AARSD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15679109
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