A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8948288



Internal ID12889593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:52102649..52102673hg38UCSC Ensembl
Innerchr10:52102652..52102667hg38UCSC Ensembl
Outerchr10:52102628..52102694hg38UCSC Ensembl
chr10:53862409..53862433hg19UCSC Ensembl
Innerchr10:53862412..53862427hg19UCSC Ensembl
Outerchr10:53862388..53862454hg19UCSC Ensembl
chr10:53532415..53532439hg18UCSC Ensembl
Innerchr10:53532433..53532418hg18UCSC Ensembl
Outerchr10:53532394..53532460hg18UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg38239
hg19239
hg18239
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3323795
Supporting Variants
SamplesNA11992
Known GenesPRKG1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8948288
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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