A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5538669



Internal ID8903843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:51005429..51007664hg38UCSC Ensembl
chr19:51508685..51510920hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg382236
hg192236
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2671814
Supporting Variants
SamplesHG00366
Known GenesKLK9
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5538669
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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