A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5639242



Internal ID8860229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:46314067..46315468hg38UCSC Ensembl
chr19:46817324..46818725hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg381402
hg191402
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2661691
Supporting Variants
SamplesHG00315
Known GenesHIF3A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5639242
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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