A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15684101



Internal ID5685917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46153527..46185331hg38UCSC Ensembl
chr17:44230893..44262697hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3831805
hg1931805
Variant TypeCNV gain
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640680
Supporting Variants
SamplesHG03911
Known GenesKANSL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15684101
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