A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2656541



Internal ID9922646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:31452541..31454012hg38UCSC Ensembl
chr18:29032504..29033975hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg381472
hg191472
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6402439, essv6151623, essv5964055, essv5634006
SamplesHG00232, HG00141, HG00258, HG00274
Known GenesDSG3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2656541
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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