A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658176



Internal ID9577595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:49287651..49297841hg38UCSC Ensembl
chr19:49790908..49801098hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3810191
hg1910191
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6105537
SamplesNA18572
Known GenesSLC6A16
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658176
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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