A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664866



Internal ID9930971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:45501801..45510566hg38UCSC Ensembl
chr3:45543293..45552058hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg388766
hg198766
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5983299, essv5629247, essv5967825, essv6067689, essv5599082, essv5566075
SamplesNA11829, HG01133, HG01353, HG00268, HG01197, NA20786
Known GenesLARS2, LARS2-AS1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664866
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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