A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666303



Internal ID9585722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:165156392..165160008hg38UCSC Ensembl
chr2:166012902..166016518hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg383617
hg193617
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6003380, essv5485840, essv6260438, essv6027598, essv6324833, essv5704053, essv6046551, essv6582159, essv6231567, essv6138764
SamplesHG01365, HG01488, HG01350, HG01134, HG01550, HG01495, HG01360, HG01253, HG01149, HG01462
Known GenesSCN3A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666303
Frequency
Sample Size1151
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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