A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642954



Internal ID7029723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:68861020..68897236hg38UCSC Ensembl
Innerchr18:68861020..68897236hg38UCSC Ensembl
Outerchr18:68860912..68897322hg38UCSC Ensembl
chr18:66528257..66564473hg19UCSC Ensembl
Innerchr18:66528257..66564473hg19UCSC Ensembl
Outerchr18:66528149..66564559hg19UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg3836217
hg1936217
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15924257, essv15924255, essv15924256
SamplesHG02185, HG03061, HG03439
Known GenesCCDC102B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642954
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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