A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640494



Internal ID6680581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:37406555..37610947hg38UCSC Ensembl
chr17:35766646..35970992hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38204393
hg19204347
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15667870, essv15667869
SamplesNA20359, NA20362
Known GenesACACA, DUSP14, SYNRG, TADA2A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640494
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