A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675609



Internal ID9595028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:46193346..46195633hg38UCSC Ensembl
chr18:43773312..43775599hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg382288
hg192288
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6575784, essv5732182, essv6469580
SamplesNA19404, HG01350, NA18487
Known GenesC18orf25
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675609
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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