A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15842425



Internal ID5844241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:36225645..36229282hg38UCSC Ensembl
Innerchr18:36225657..36229270hg38UCSC Ensembl
Outerchr18:36225633..36229294hg38UCSC Ensembl
chr18:33805608..33809245hg19UCSC Ensembl
Innerchr18:33805620..33809233hg19UCSC Ensembl
Outerchr18:33805596..33809257hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg383638
hg193638
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642220
Supporting Variants
SamplesHG01947
Known GenesMOCOS
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15842425
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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