A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669582



Internal ID9589001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:110678815..110682096hg38UCSC Ensembl
Outerchr10:110678658..110682249hg38UCSC Ensembl
Innerchr10:112438573..112441854hg19UCSC Ensembl
Outerchr10:112438416..112442007hg19UCSC Ensembl
Cytoband10q25.2
Allele length
AssemblyAllele length
hg383592
hg193592
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5717235, essv6477591
SamplesNA18534, NA18986
Known GenesRBM20
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669582
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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