A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642520



Internal ID6682601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:50904416..50913598hg38UCSC Ensembl
Innerchr18:50904916..50913098hg38UCSC Ensembl
Outerchr18:50903416..50914598hg38UCSC Ensembl
chr18:48430786..48439968hg19UCSC Ensembl
Innerchr18:48431286..48439468hg19UCSC Ensembl
Outerchr18:48429786..48440968hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg389183
hg199183
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15869662
SamplesNA21129
Known GenesME2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642520
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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