A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661866



Internal ID9581285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:49432111..49436434hg38UCSC Ensembl
chr20:48048648..48052971hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg384324
hg194324
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6074346, essv6130185
SamplesNA19404, NA19380
Known GenesKCNB1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661866
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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