A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688135



Internal ID14693825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:70702590..70705088hg38UCSC Ensembl
Innerchr10:70703590..70704088hg38UCSC Ensembl
Outerchr10:70701590..70706088hg38UCSC Ensembl
chr10:72462346..72464844hg19UCSC Ensembl
Innerchr10:72463346..72463844hg19UCSC Ensembl
Outerchr10:72461346..72465844hg19UCSC Ensembl
chr10:72132352..72134850hg18UCSC Ensembl
Innerchr10:72133352..72133850hg18UCSC Ensembl
Outerchr10:72131352..72135850hg18UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg382499
hg192499
hg182499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3423969
Supporting Variants
SamplesNA19239
Known GenesADAMTS14
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688135
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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