A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663443



Internal ID9582862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:51248373..51254630hg38UCSC Ensembl
chr1:51714045..51720302hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg386258
hg196258
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5587883, essv5442081
SamplesHG01173, HG01070
Known GenesRNF11
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663443
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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