A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15855552



Internal ID506682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:41802277..41855882hg38UCSC Ensembl
chr18:39382242..39435847hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg3853606
hg1953606
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642339
Supporting Variants
SamplesHG00180
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15855552
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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