A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639758



Internal ID7026536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:3855202..3874216hg38UCSC Ensembl
chr17:3758496..3777510hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3819015
hg1919015
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15590088, essv15590087
SamplesHG00410, HG04006
Known GenesCAMKK1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639758
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