A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15854316



Internal ID5856132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:41315081..42116859hg38UCSC Ensembl
Innerchr18:41315231..42116709hg38UCSC Ensembl
Outerchr18:41314931..42117009hg38UCSC Ensembl
chr18:38895045..39696823hg19UCSC Ensembl
Innerchr18:38895195..39696673hg19UCSC Ensembl
Outerchr18:38894895..39696973hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg38801779
hg19801779
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642321
Supporting Variants
SamplesHG01852
Known GenesKC6, PIK3C3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15854316
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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