A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672690



Internal ID9592109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:103396266..103398661hg38UCSC Ensembl
chr8:104408494..104410889hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg382396
hg192396
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5990909
SamplesNA18499
Known GenesSLC25A32
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672690
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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