A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669732



Internal ID9589151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:51226708..51232199hg38UCSC Ensembl
Outerchr10:51226671..51232249hg38UCSC Ensembl
Innerchr10:52986468..52991959hg19UCSC Ensembl
Outerchr10:52986431..52992009hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg385579
hg195579
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6260537
SamplesNA20512
Known GenesPRKG1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669732
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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