A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1303e199



Internal ID22759076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:116993163..116995935hg38UCSC Ensembl
chr8:118005402..118008174hg19UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg382773
hg192773
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2674208, esv2671205
SamplesNA19909, NA18510, NA19383, NA19451, NA19108, NA19473, NA19900
Known GenesSLC30A8
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv1303e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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