A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3388062



Internal ID14888345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:85686792..85686802hg38UCSC Ensembl
Innerchr4:85686788..85686804hg38UCSC Ensembl
Outerchr4:85686780..85686814hg38UCSC Ensembl
chr4:86607945..86607955hg19UCSC Ensembl
Innerchr4:86607941..86607957hg19UCSC Ensembl
Outerchr4:86607933..86607967hg19UCSC Ensembl
chr4:86826969..86826979hg18UCSC Ensembl
Innerchr4:86826981..86826965hg18UCSC Ensembl
Outerchr4:86826957..86826991hg18UCSC 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 Variantsessv8919811, essv8919809, essv8919808, essv8919813, essv8919810, essv8919812
SamplesNA07347, NA19108, NA18505, NA11994, NA10851, NA07000
Known GenesARHGAP24
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3388062
Frequency
Sample Size185
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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