A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15819445



Internal ID2970873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:22213943..22217170hg38UCSC Ensembl
Innerchr18:22214443..22216670hg38UCSC Ensembl
Outerchr18:22212943..22218170hg38UCSC Ensembl
chr18:19793906..19797133hg19UCSC Ensembl
Innerchr18:19794406..19796633hg19UCSC Ensembl
Outerchr18:19792906..19798133hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg383228
hg193228
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641950
Supporting Variants
SamplesHG02623
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15819445
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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