A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3377806



Internal ID14878073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:79752664..79753262hg38UCSC Ensembl
Innerchr18:79752663..79753263hg38UCSC Ensembl
Outerchr18:79751664..79754262hg38UCSC Ensembl
chr18:77512664..77513262hg19UCSC Ensembl
Innerchr18:77512663..77513263hg19UCSC Ensembl
Outerchr18:77511664..77514262hg19UCSC Ensembl
chr18:75613652..75614250hg18UCSC Ensembl
Innerchr18:75614251..75613651hg18UCSC Ensembl
Outerchr18:75612652..75615250hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38599
hg19599
hg18599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8691371
SamplesNA19239
Known GenesCTDP1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3377806
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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