A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3391683



Internal ID15238649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:59482873..59482887hg38UCSC Ensembl
Innerchr18:59482864..59482894hg38UCSC Ensembl
Outerchr18:59482850..59482908hg38UCSC Ensembl
chr18:57150105..57150119hg19UCSC Ensembl
Innerchr18:57150096..57150126hg19UCSC Ensembl
Outerchr18:57150082..57150140hg19UCSC Ensembl
chr18:55301085..55301099hg18UCSC Ensembl
Innerchr18:55301106..55301076hg18UCSC Ensembl
Outerchr18:55301062..55301120hg18UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8973832, essv8973850, essv8973828, essv8973827, essv8973834, essv8973852, essv8973856, essv8973853, essv8973857, essv8973842, essv8973829, essv8973841, essv8973843, essv8973830, essv8973838, essv8973831, essv8973854, essv8973833, essv8973840, essv8973855, essv8973837, essv8973839, essv8973835, essv8973851, essv8973846, essv8973848, essv8973849, essv8973844, essv8973845, essv8973826
SamplesNA11995, NA18592, NA10851, NA12414, NA18526, NA18547, NA11918, NA07347, NA18582, NA12287, NA18498, NA12761, NA12044, NA12489, NA18572, NA18948, NA18537, NA18555, NA12144, NA18570, NA18576, NA12043, NA12716, NA18952, NA07037, NA12749, NA19093, NA07000, NA12776, NA18577
Known GenesCCBE1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3391683
Frequency
Sample Size185
Observed Gain30
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer