A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674208



Internal ID9940313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:116993185..116995935hg38UCSC Ensembl
chr8:118005424..118008174hg19UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg382751
hg192751
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1303e199
Supporting Variantsessv5647135, essv5676831, essv6424147, essv6340102, essv5653167, essv5733086, essv6538309
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)esv2674208
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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