A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671992



Internal ID9591411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:63336193..63337279hg38UCSC Ensembl
chr18:61003426..61004512hg19UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg381087
hg191087
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6059382, essv6028283
SamplesNA19313, NA19331
Known GenesKDSR
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671992
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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