A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3434904



Internal ID14935172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:80229978..80231576hg38UCSC Ensembl
Innerchr18:80230576..80230978hg38UCSC Ensembl
Outerchr18:80228978..80232576hg38UCSC Ensembl
chr18:77987861..77989459hg19UCSC Ensembl
Innerchr18:77988459..77988861hg19UCSC Ensembl
Outerchr18:77986861..77990459hg19UCSC Ensembl
chr18:76088852..76090450hg18UCSC Ensembl
Innerchr18:76089852..76089450hg18UCSC Ensembl
Outerchr18:76087852..76091450hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg381599
hg191599
hg181599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8691385
SamplesNA19239
Known GenesPARD6G
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3434904
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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