A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3416200



Internal ID15263159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:41596785..41596785hg38UCSC Ensembl
Innerchr18:41596784..41596786hg38UCSC Ensembl
Outerchr18:41596725..41596835hg38UCSC Ensembl
chr18:39176749..39176749hg19UCSC Ensembl
Innerchr18:39176748..39176750hg19UCSC Ensembl
Outerchr18:39176689..39176799hg19UCSC Ensembl
chr18:37430747..37430747hg18UCSC Ensembl
Innerchr18:37430748..37430746hg18UCSC Ensembl
Outerchr18:37430687..37430797hg18UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg3856
hg1956
hg1856
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8821038
SamplesNA19240
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3416200
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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