A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3309462



Internal ID14809726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:85686798..85686799hg38UCSC Ensembl
Innerchr4:85686781..85686816hg38UCSC Ensembl
Outerchr4:85686780..85686817hg38UCSC Ensembl
chr4:86607951..86607952hg19UCSC Ensembl
Innerchr4:86607934..86607969hg19UCSC Ensembl
Outerchr4:86607933..86607970hg19UCSC Ensembl
chr4:86826975..86826976hg18UCSC Ensembl
Innerchr4:86826993..86826958hg18UCSC Ensembl
Outerchr4:86826957..86826994hg18UCSC Ensembl
Cytoband4q21.23
Allele length
AssemblyAllele length
hg38450
hg19450
hg18450
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7840984, essv7839922
SamplesNA12891, NA12878
Known GenesARHGAP24
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3309462
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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