A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6185444



Internal ID9162847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:48126028..48503451hg38UCSC Ensembl
chr20:46754771..47131697hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg38377424
hg19376927
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2661986
Supporting Variants
SamplesNA18502
Known GenesLINC00494
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6185444
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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