A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670258



Internal ID9936363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:10220366..10225919hg38UCSC Ensembl
chr18:10220363..10225916hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg385554
hg195554
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6212600, essv5877217
SamplesNA18871, NA18517
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670258
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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