A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10420923



Internal ID422739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:17755879..18035557hg38UCSC Ensembl
chr2:17937146..18216823hg19UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg38279679
hg19279678
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589949
Supporting Variants
SamplesHG00663
Known GenesGEN1, KCNS3, MSGN1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10420923
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