A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669961



Internal ID9936066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:68628597..68639399hg38UCSC Ensembl
chr12:69022377..69033179hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg3810803
hg1910803
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5414098, essv6031386, essv5734349, essv6289533
SamplesNA20810, NA19461, NA19472, NA19431
Known GenesRAP1B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669961
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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