A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8687912



Internal ID13716511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:125885793..125928391hg38UCSC Ensembl
Innerchr10:125886793..125927391hg38UCSC Ensembl
Outerchr10:125884793..125929391hg38UCSC Ensembl
chr10:127574362..127616960hg19UCSC Ensembl
Innerchr10:127575362..127615960hg19UCSC Ensembl
Outerchr10:127573362..127617960hg19UCSC Ensembl
chr10:127564352..127606950hg18UCSC Ensembl
Innerchr10:127565352..127605950hg18UCSC Ensembl
Outerchr10:127563352..127607950hg18UCSC Ensembl
Cytoband10q26.2
Allele length
AssemblyAllele length
hg3842599
hg1942599
hg1842599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3396440
Supporting Variants
SamplesNA12892
Known GenesFANK1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8687912
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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