A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3345401



Internal ID15192385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:76966471..76967712hg38UCSC Ensembl
Innerchr18:76966471..76967712hg38UCSC Ensembl
Outerchr18:76966262..76968308hg38UCSC Ensembl
chr18:74678427..74679668hg19UCSC Ensembl
Innerchr18:74678427..74679668hg19UCSC Ensembl
Outerchr18:74678218..74680264hg19UCSC Ensembl
chr18:72807415..72808656hg18UCSC Ensembl
Innerchr18:72807415..72808656hg18UCSC Ensembl
Outerchr18:72807206..72809252hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg381242
hg191242
hg181242
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8652002
SamplesNA19240
Known GenesZNF236
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3345401
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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