A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7744558



Internal ID13415651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:51303343..51303344hg38UCSC Ensembl
Innerchr10:51303318..51303369hg38UCSC Ensembl
Outerchr10:51303317..51303370hg38UCSC Ensembl
chr10:53063103..53063104hg19UCSC Ensembl
Innerchr10:53063078..53063129hg19UCSC Ensembl
Outerchr10:53063077..53063130hg19UCSC Ensembl
chr10:52733109..52733110hg18UCSC Ensembl
Innerchr10:52733135..52733084hg18UCSC Ensembl
Outerchr10:52733083..52733136hg18UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg381575
hg191575
hg181575
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3304879
Supporting Variants
SamplesNA18498
Known GenesPRKG1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7744558
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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