A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7840984



Internal ID13352835
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 StatusS
Merged Variantsesv3309462
Supporting Variants
SamplesNA12891
Known GenesARHGAP24
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7840984
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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