A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8740895



Internal ID14737946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:51051340..51051340hg38UCSC Ensembl
Innerchr18:51051339..51051341hg38UCSC Ensembl
Outerchr18:51051290..51051390hg38UCSC Ensembl
chr18:48577710..48577710hg19UCSC Ensembl
Innerchr18:48577709..48577711hg19UCSC Ensembl
Outerchr18:48577660..48577760hg19UCSC Ensembl
chr18:46831708..46831708hg18UCSC Ensembl
Innerchr18:46831709..46831707hg18UCSC Ensembl
Outerchr18:46831658..46831758hg18UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg385288
hg195288
hg185288
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3342561
Supporting Variants
SamplesNA19240
Known GenesSMAD4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8740895
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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