A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673946



Internal ID9593365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:11406809..11407946hg38UCSC Ensembl
chr19:11517485..11518622hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg381138
hg191138
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5490410, essv5564120, essv6304694, essv5854390
SamplesNA12342, HG00310, HG00190, HG01137
Known GenesRGL3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673946
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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