A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8687894



Internal ID15075862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:122724546..122726044hg38UCSC Ensembl
Innerchr10:122725044..122725546hg38UCSC Ensembl
Outerchr10:122723546..122727044hg38UCSC Ensembl
chr10:124484062..124485560hg19UCSC Ensembl
Innerchr10:124484560..124485062hg19UCSC Ensembl
Outerchr10:124483062..124486560hg19UCSC Ensembl
chr10:124474052..124475550hg18UCSC Ensembl
Innerchr10:124475052..124474550hg18UCSC Ensembl
Outerchr10:124473052..124476550hg18UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg381499
hg191499
hg181499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3413737
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8687894
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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