A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688071



Internal ID13285840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:46550073..46555271hg38UCSC Ensembl
Innerchr10:46551073..46554271hg38UCSC Ensembl
Outerchr10:46549073..46556271hg38UCSC Ensembl
chr10:46994346..46999544hg19UCSC Ensembl
Innerchr10:46995346..46998544hg19UCSC Ensembl
Outerchr10:46993346..47000544hg19UCSC Ensembl
chr10:46414352..46419550hg18UCSC Ensembl
Innerchr10:46415352..46418550hg18UCSC Ensembl
Outerchr10:46413352..46420550hg18UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg385199
hg195199
hg185199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3330359
Supporting Variants
SamplesNA12878
Known GenesGPRIN2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688071
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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