A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15924239



Internal ID2481556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:68840895..69057808hg38UCSC Ensembl
Innerchr18:68840915..69057788hg38UCSC Ensembl
Outerchr18:68840875..69057828hg38UCSC Ensembl
chr18:66508132..66725045hg19UCSC Ensembl
Innerchr18:66508152..66725025hg19UCSC Ensembl
Outerchr18:66508112..66725065hg19UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg38216914
hg19216914
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642952
Supporting Variants
SamplesHG02185
Known GenesCCDC102B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15924239
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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