A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643335



Internal ID6683415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:80162955..80187798hg38UCSC Ensembl
Innerchr18:80163455..80187298hg38UCSC Ensembl
Outerchr18:80161955..80188798hg38UCSC Ensembl
chr18:77920838..77945681hg19UCSC Ensembl
Innerchr18:77921338..77945181hg19UCSC Ensembl
Outerchr18:77919838..77946681hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3824844
hg1924844
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15961879, essv15961880
SamplesHG01571, NA06984
Known GenesPARD6G, PARD6G-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643335
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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