A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8675703



Internal ID13349928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:85686796..85686810hg38UCSC Ensembl
Innerchr4:85686792..85686812hg38UCSC Ensembl
Outerchr4:85686780..85686826hg38UCSC Ensembl
chr4:86607949..86607963hg19UCSC Ensembl
Innerchr4:86607945..86607965hg19UCSC Ensembl
Outerchr4:86607933..86607979hg19UCSC Ensembl
chr4:86826973..86826987hg18UCSC Ensembl
Innerchr4:86826989..86826969hg18UCSC Ensembl
Outerchr4:86826957..86827003hg18UCSC Ensembl
Cytoband4q21.23
Allele length
AssemblyAllele length
hg38441
hg19441
hg18441
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3327662
Supporting Variants
SamplesNA12891
Known GenesARHGAP24
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8675703
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer