A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3410531



Internal ID14910805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:80185678..80186376hg38UCSC Ensembl
Innerchr18:80185677..80186377hg38UCSC Ensembl
Outerchr18:80184678..80187376hg38UCSC Ensembl
chr18:77943561..77944259hg19UCSC Ensembl
Innerchr18:77943560..77944260hg19UCSC Ensembl
Outerchr18:77942561..77945259hg19UCSC Ensembl
chr18:76044552..76045250hg18UCSC Ensembl
Innerchr18:76045251..76044551hg18UCSC Ensembl
Outerchr18:76043552..76046250hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38699
hg19699
hg18699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8691383
SamplesNA19239
Known GenesPARD6G
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3410531
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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