A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303918



Internal ID15150866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:22557294..22557295hg38UCSC Ensembl
Innerchr4:22557206..22557383hg38UCSC Ensembl
Outerchr4:22557205..22557384hg38UCSC Ensembl
chr4:22558917..22558918hg19UCSC Ensembl
Innerchr4:22558829..22559006hg19UCSC Ensembl
Outerchr4:22558828..22559007hg19UCSC Ensembl
chr4:22168015..22168016hg18UCSC Ensembl
Innerchr4:22168104..22167927hg18UCSC Ensembl
Outerchr4:22167926..22168105hg18UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg3875
hg1975
hg1875
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7755192, essv7749511, essv7742962, essv7740436, essv7759601, essv7747792, essv7744206, essv7747487, essv7750529, essv7744573, essv7753019, essv7756193, essv7752088, essv7743836, essv7751635, essv7743535, essv7753149, essv7755596, essv7754620, essv7760710, essv7744412, essv7748788
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)esv3303918
Frequency
Sample Size185
Observed Gain22
Observed Loss0
Observed Complex0
Frequencyn/a


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