A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3431173



Internal ID15278129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:32850644..32850650hg38UCSC Ensembl
Innerchr18:32850629..32850665hg38UCSC Ensembl
Outerchr18:32850623..32850671hg38UCSC Ensembl
chr18:30430607..30430613hg19UCSC Ensembl
Innerchr18:30430592..30430628hg19UCSC Ensembl
Outerchr18:30430586..30430634hg19UCSC Ensembl
chr18:28684605..28684611hg18UCSC Ensembl
Innerchr18:28684626..28684590hg18UCSC Ensembl
Outerchr18:28684584..28684632hg18UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3853
hg1953
hg1853
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7866024
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3431173
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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