A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5877815



Internal ID9823028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:55542425..55542684hg38UCSC Ensembl
chr19:56053791..56054050hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38260
hg19260
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2661748
Supporting Variants
SamplesNA20287
Known GenesSBK3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5877815
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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