A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv647e199



Internal ID22758420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:44727480..44731448hg38UCSC Ensembl
chr19:45230742..45234718hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg383969
hg193977
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2678825, esv2677675
SamplesHG00418
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv647e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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