A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671365



Internal ID9937470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:13465823..13466867hg38UCSC Ensembl
chr18:13465822..13466866hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg381045
hg191045
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6233872
SamplesNA18486
Known GenesLDLRAD4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671365
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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