A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv579e199



Internal ID22758352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:4506363..4510895hg38UCSC Ensembl
chr18:4506363..4510895hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg384533
hg194533
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2666312, esv2670599
SamplesNA19701, NA18508, NA19332, NA19451, HG01171, NA18858, HG01107, NA19248, NA19116, NA19900
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv579e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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