A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3305527



Internal ID14805789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:85686795..85686796hg38UCSC Ensembl
Innerchr4:85686769..85686822hg38UCSC Ensembl
Outerchr4:85686768..85686823hg38UCSC Ensembl
chr4:86607948..86607949hg19UCSC Ensembl
Innerchr4:86607922..86607975hg19UCSC Ensembl
Outerchr4:86607921..86607976hg19UCSC Ensembl
chr4:86826972..86826973hg18UCSC Ensembl
Innerchr4:86826999..86826946hg18UCSC Ensembl
Outerchr4:86826945..86827000hg18UCSC Ensembl
Cytoband4q21.23
Allele length
AssemblyAllele length
hg38441
hg19441
hg18441
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7758102, essv7747462, essv7748429, essv7743422, essv7753074, essv7759599, essv7755671, essv7752729
SamplesNA07347, NA19108, NA18505, NA11994, NA12891, NA10851, NA12878, NA07000
Known GenesARHGAP24
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3305527
Frequency
Sample Size185
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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