A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657458



Internal ID9576877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:17583821..17586502hg38UCSC Ensembl
Outerchr22:17583664..17586671hg38UCSC Ensembl
Innerchr22:18066587..18069268hg19UCSC Ensembl
Outerchr22:18066430..18069437hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg383008
hg193008
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6063616, essv5808523, essv5396809
SamplesNA18561, HG00590, HG00625
Known GenesSLC25A18
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657458
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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