A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673058



Internal ID9592477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:61810763..61819997hg38UCSC Ensembl
Outerchr1:61810726..61820047hg38UCSC Ensembl
Innerchr1:62276435..62285669hg19UCSC Ensembl
Outerchr1:62276398..62285719hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg389322
hg199322
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5716604
SamplesHG00327
Known GenesINADL
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673058
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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