A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3342959



Internal ID15189944
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 StatusM
Merged Variants
Supporting Variantsessv8917728, essv8917723, essv8917733, essv8917727, essv8917717, essv8917716, essv8917724, essv8917731, essv8917729, essv8917730, essv8917721, essv8917732, essv8917720, essv8917715, essv8917735, essv8917726, essv8917713, essv8917722, essv8917734, essv8917712, essv8917718, essv8917719
SamplesNA18947, NA18861, NA10851, NA11931, NA18870, NA18510, NA07347, NA12287, NA18498, NA12044, NA11993, NA18951, NA12489, NA18956, NA11894, NA19257, NA19225, NA18523, NA19108, NA18943, NA19093, NA18511
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3342959
Frequency
Sample Size185
Observed Gain22
Observed Loss0
Observed Complex0
Frequencyn/a


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