A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691354



Internal ID15062576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:79145264..79146762hg38UCSC Ensembl
Innerchr18:79145762..79146264hg38UCSC Ensembl
Outerchr18:79144264..79147762hg38UCSC Ensembl
chr18:76905264..76906762hg19UCSC Ensembl
Innerchr18:76905762..76906264hg19UCSC Ensembl
Outerchr18:76904264..76907762hg19UCSC Ensembl
chr18:75006252..75007750hg18UCSC Ensembl
Innerchr18:75007252..75006750hg18UCSC Ensembl
Outerchr18:75005252..75008750hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg381499
hg191499
hg181499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3380245
Supporting Variants
SamplesNA19239
Known GenesATP9B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691354
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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