A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3334883



Internal ID14835156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:52102658..52102677hg38UCSC Ensembl
Innerchr10:52102654..52102681hg38UCSC Ensembl
Outerchr10:52102635..52102700hg38UCSC Ensembl
chr10:53862418..53862437hg19UCSC Ensembl
Innerchr10:53862414..53862441hg19UCSC Ensembl
Outerchr10:53862395..53862460hg19UCSC Ensembl
chr10:53532424..53532443hg18UCSC Ensembl
Innerchr10:53532447..53532420hg18UCSC Ensembl
Outerchr10:53532401..53532466hg18UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9647258
SamplesNA12874
Known GenesPRKG1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3334883
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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