A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8687910



Internal ID13690362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:125885793..125922791hg38UCSC Ensembl
Innerchr10:125886793..125921791hg38UCSC Ensembl
Outerchr10:125884793..125923791hg38UCSC Ensembl
chr10:127574362..127611360hg19UCSC Ensembl
Innerchr10:127575362..127610360hg19UCSC Ensembl
Outerchr10:127573362..127612360hg19UCSC Ensembl
chr10:127564352..127601350hg18UCSC Ensembl
Innerchr10:127565352..127600350hg18UCSC Ensembl
Outerchr10:127563352..127602350hg18UCSC Ensembl
Cytoband10q26.2
Allele length
AssemblyAllele length
hg3836999
hg1936999
hg1836999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3418815
Supporting Variants
SamplesNA12891
Known GenesFANK1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8687910
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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