A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8687993



Internal ID15077000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:14448047..14450045hg38UCSC Ensembl
Innerchr10:14449045..14449047hg38UCSC Ensembl
Outerchr10:14447047..14451045hg38UCSC Ensembl
chr10:14490046..14492044hg19UCSC Ensembl
Innerchr10:14491044..14491046hg19UCSC Ensembl
Outerchr10:14489046..14493044hg19UCSC Ensembl
chr10:14530052..14532050hg18UCSC Ensembl
Innerchr10:14531052..14531050hg18UCSC Ensembl
Outerchr10:14529052..14533050hg18UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg381999
hg191999
hg181999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3351774
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8687993
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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