A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688148



Internal ID13633370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:89035015..89037713hg38UCSC Ensembl
Innerchr10:89036015..89036713hg38UCSC Ensembl
Outerchr10:89034015..89038713hg38UCSC Ensembl
chr10:90794772..90797470hg19UCSC Ensembl
Innerchr10:90795772..90796470hg19UCSC Ensembl
Outerchr10:90793772..90798470hg19UCSC Ensembl
chr10:90784752..90787450hg18UCSC Ensembl
Innerchr10:90785752..90786450hg18UCSC Ensembl
Outerchr10:90783752..90788450hg18UCSC Ensembl
Cytoband10q23.31
Allele length
AssemblyAllele length
hg382699
hg192699
hg182699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3345168
Supporting Variants
SamplesNA12878
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688148
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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