A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8917724



Internal ID14475010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:22557305..22557355hg38UCSC Ensembl
Innerchr4:22557293..22557365hg38UCSC Ensembl
Outerchr4:22557245..22557415hg38UCSC Ensembl
chr4:22558928..22558978hg19UCSC Ensembl
Innerchr4:22558916..22558988hg19UCSC Ensembl
Outerchr4:22558868..22559038hg19UCSC Ensembl
chr4:22168026..22168076hg18UCSC Ensembl
Innerchr4:22168086..22168014hg18UCSC Ensembl
Outerchr4:22167966..22168136hg18UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg38123
hg19123
hg18123
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3342959
Supporting Variants
SamplesNA18943
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8917724
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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