A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664873



Internal ID9930978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:68778804..68779491hg38UCSC Ensembl
chr11:68546272..68546959hg19UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg38688
hg19688
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6024971, essv5661673, essv6500864, essv6361455, essv6128522, essv5488849, essv6010947, essv5660109
SamplesNA18599, NA19068, NA18567, HG00583, NA18536, NA18546, NA18543, NA18552
Known GenesCPT1A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664873
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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