A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667341



Internal ID9586760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:11047502..11048325hg38UCSC Ensembl
chr19:11158178..11159001hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38824
hg19824
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5599528
SamplesNA19430
Known GenesSMARCA4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667341
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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