A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663185



Internal ID9929290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:103396466..103399741hg38UCSC Ensembl
Outerchr8:103396309..103399894hg38UCSC Ensembl
Innerchr8:104408694..104411969hg19UCSC Ensembl
Outerchr8:104408537..104412122hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg383586
hg193586
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5900233
SamplesNA19717
Known GenesSLC25A32
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663185
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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