A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640146



Internal ID7026921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:18274995..18279138hg38UCSC Ensembl
chr17:18178309..18182452hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg384144
hg194144
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15637120, essv15637123, essv15637124, essv15637121, essv15637122, essv15637126, essv15637125
SamplesHG03800, HG02298, NA20755, HG02164, HG02219, HG02941, NA19428
Known GenesTOP3A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640146
Frequency
Sample Size2504
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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