A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13803488



Internal ID3805304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:51226785..51232424hg38UCSC Ensembl
Innerchr10:51226835..51232374hg38UCSC Ensembl
Outerchr10:51226693..51232516hg38UCSC Ensembl
chr10:52986545..52992184hg19UCSC Ensembl
Innerchr10:52986595..52992134hg19UCSC Ensembl
Outerchr10:52986453..52992276hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg385640
hg195640
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3623226
Supporting Variants
SamplesNA20512
Known GenesPRKG1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13803488
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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