A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6059384



Internal ID9036787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54976502..55017273hg38UCSC Ensembl
chr19:55487870..55528641hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3840772
hg1940772
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2659880
Supporting Variants
SamplesHG00554
Known GenesGP6, NLRP2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6059384
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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