A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691298



Internal ID15062268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:77036108..77037006hg38UCSC Ensembl
Innerchr18:77036107..77037007hg38UCSC Ensembl
Outerchr18:77035108..77038006hg38UCSC Ensembl
chr18:74748064..74748962hg19UCSC Ensembl
Innerchr18:74748063..74748963hg19UCSC Ensembl
Outerchr18:74747064..74749962hg19UCSC Ensembl
chr18:72877052..72877950hg18UCSC Ensembl
Innerchr18:72877951..72877051hg18UCSC Ensembl
Outerchr18:72876052..72878950hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38899
hg19899
hg18899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3368724
Supporting Variants
SamplesNA19239
Known GenesMBP
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691298
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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