A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3304012



Internal ID14804274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:49383748..49383749hg38UCSC Ensembl
Innerchr13:49383673..49383824hg38UCSC Ensembl
Outerchr13:49383672..49383825hg38UCSC Ensembl
chr13:49957884..49957885hg19UCSC Ensembl
Innerchr13:49957809..49957960hg19UCSC Ensembl
Outerchr13:49957808..49957961hg19UCSC Ensembl
chr13:48855885..48855886hg18UCSC Ensembl
Innerchr13:48855961..48855810hg18UCSC Ensembl
Outerchr13:48855809..48855962hg18UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg3889
hg1989
hg1889
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7750918, essv7754676, essv7752066, essv7747557, essv7740968, essv7753899, essv7759100, essv7740695, essv7762498, essv7740384, essv7753719, essv7761983, essv7753061, essv7750341, essv7758811, essv7742973, essv7751389, essv7751301, essv7761137, essv7747818, essv7743230, essv7754402, essv7754971, essv7748446, essv7758090, essv7760601, essv7751133
SamplesNA18947, NA11995, NA18861, NA18508, NA18980, NA07346, NA19005, NA18944, NA12891, NA18942, NA18916, NA07347, NA12287, NA18949, NA12156, NA12044, NA19239, NA18951, NA12878, NA18948, NA12892, NA19225, NA18523, NA18517, NA19129, NA12776, NA18965
Known GenesCAB39L
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3304012
Frequency
Sample Size185
Observed Gain27
Observed Loss0
Observed Complex0
Frequencyn/a


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