A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691304



Internal ID15105286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:77526408..77527606hg38UCSC Ensembl
Innerchr18:77526606..77527408hg38UCSC Ensembl
Outerchr18:77525408..77528606hg38UCSC Ensembl
chr18:75238364..75239562hg19UCSC Ensembl
Innerchr18:75238562..75239364hg19UCSC Ensembl
Outerchr18:75237364..75240562hg19UCSC Ensembl
chr18:73367352..73368550hg18UCSC Ensembl
Innerchr18:73368352..73367550hg18UCSC Ensembl
Outerchr18:73366352..73369550hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3393632
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691304
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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