A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3428249



Internal ID15275205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:39801990..39802988hg38UCSC Ensembl
Innerchr18:39801989..39802989hg38UCSC Ensembl
Outerchr18:39800990..39803988hg38UCSC Ensembl
chr18:37381954..37382952hg19UCSC Ensembl
Innerchr18:37381953..37382953hg19UCSC Ensembl
Outerchr18:37380954..37383952hg19UCSC Ensembl
chr18:35635952..35636950hg18UCSC Ensembl
Innerchr18:35636951..35635951hg18UCSC Ensembl
Outerchr18:35634952..35637950hg18UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg38999
hg19999
hg18999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8691201
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3428249
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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