A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642111



Internal ID7028881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:30628492..30633669hg38UCSC Ensembl
Innerchr18:30628551..30633610hg38UCSC Ensembl
Outerchr18:30628433..30633728hg38UCSC Ensembl
chr18:28208458..28213635hg19UCSC Ensembl
Innerchr18:28208517..28213576hg19UCSC Ensembl
Outerchr18:28208399..28213694hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg385178
hg195178
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15835398, essv15835399
SamplesNA20858, HG02775
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642111
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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