A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640493



Internal ID7027268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:37399339..37415811hg38UCSC Ensembl
chr17:35759429..35775895hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3816473
hg1916467
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15667868, essv15667867
SamplesNA20359, NA20362
Known GenesACACA, TADA2A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640493
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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