A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665038



Internal ID9931143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:152432039..152465003hg38UCSC Ensembl
chr1:152404515..152437479hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3832965
hg1932965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6566453, essv5544629
SamplesHG00608, HG00656
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665038
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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