A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3310033



Internal ID14810298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:51303333..51303334hg38UCSC Ensembl
Innerchr10:51303307..51303360hg38UCSC Ensembl
Outerchr10:51303306..51303361hg38UCSC Ensembl
chr10:53063093..53063094hg19UCSC Ensembl
Innerchr10:53063067..53063120hg19UCSC Ensembl
Outerchr10:53063066..53063121hg19UCSC Ensembl
chr10:52733099..52733100hg18UCSC Ensembl
Innerchr10:52733126..52733073hg18UCSC Ensembl
Outerchr10:52733072..52733127hg18UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg381578
hg191578
hg181578
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7836943, essv7837319
SamplesNA19239, NA19240
Known GenesPRKG1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3310033
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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