A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5946003



Internal ID9795500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:17527121..17528937hg38UCSC Ensembl
chr19:17637930..17639746hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg381817
hg191817
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2674708
Supporting Variants
SamplesNA19789
Known GenesFAM129C
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5946003
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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