A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15900099



Internal ID2354245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:61262453..61266906hg38UCSC Ensembl
Innerchr18:61262487..61266873hg38UCSC Ensembl
Outerchr18:61262420..61266940hg38UCSC Ensembl
chr18:58929686..58934139hg19UCSC Ensembl
Innerchr18:58929720..58934106hg19UCSC Ensembl
Outerchr18:58929653..58934173hg19UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg384454
hg194454
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642729
Supporting Variants
SamplesHG02086
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15900099
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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