A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306135



Internal ID14806397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:52102654..52102655hg38UCSC Ensembl
Innerchr10:52102636..52102673hg38UCSC Ensembl
Outerchr10:52102635..52102674hg38UCSC Ensembl
chr10:53862414..53862415hg19UCSC Ensembl
Innerchr10:53862396..53862433hg19UCSC Ensembl
Outerchr10:53862395..53862434hg19UCSC Ensembl
chr10:53532420..53532421hg18UCSC Ensembl
Innerchr10:53532439..53532402hg18UCSC Ensembl
Outerchr10:53532401..53532440hg18UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg38249
hg19249
hg18249
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7775418, essv7813580, essv7772634, essv7818952, essv7815671, essv7817504, essv7824957, essv7797608, essv7819812, essv7811576, essv7833695, essv7776167, essv7813031, essv7808541
SamplesNA12750, NA10847, NA18603, NA19147, NA12763, NA11994, NA07357, NA12814, NA12144, NA19190, NA19129, NA10851, NA11992, NA12874
Known GenesPRKG1
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306135
Frequency
Sample Size185
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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