A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6586621



Internal ID9745990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:46947415..46949880hg38UCSC Ensembl
chr18:44527378..44529843hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg382466
hg192466
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2659165
Supporting Variants
SamplesNA19684
Known GenesKATNAL2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6586621
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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