A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664192



Internal ID9583611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:190121973..190123370hg38UCSC Ensembl
chr3:189839762..189841159hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg381398
hg191398
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5827235, essv6517118, essv6115295, essv5422432, essv6351375, essv5819731, essv6253920, essv5557526, essv6263588, essv6472452, essv6058292, essv5692114, essv6321539, essv6070918, essv6049824, essv6558111, essv5607879, essv5764016, essv5745732, essv5797548
SamplesNA18486, NA20294, NA19190, NA19107, NA18519, NA19916, NA19385, NA19172, NA19391, NA19461, NA18853, NA19395, NA19256, NA19473, NA19334, NA19311, NA19360, NA19093, NA18487, NA19431
Known GenesLEPREL1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664192
Frequency
Sample Size1151
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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