A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3327662



Internal ID14827941
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 StatusM
Merged Variants
Supporting Variantsessv8675703, essv8675704
SamplesNA12891, NA12878
Known GenesARHGAP24
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3327662
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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