A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671913



Internal ID9591332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:27505061..27506968hg38UCSC Ensembl
chr10:27793990..27795897hg19UCSC Ensembl
Cytoband10p12.1
Allele length
AssemblyAllele length
hg381908
hg191908
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5564744, essv5477969, essv6124947, essv5675674, essv6005812, essv5537727
SamplesHG00581, NA18963, HG00557, HG00692, NA18986, NA19063
Known GenesRAB18
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671913
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