A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642321



Internal ID6682402
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15854317, essv15854316
SamplesHG02142, HG01852
Known GenesKC6, PIK3C3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642321
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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