A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660108



Internal ID9926213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:28883889..28894250hg38UCSC Ensembl
chr2:29106755..29117116hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg3810362
hg1910362
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5953088, essv6505889, essv5480879, essv5695418
SamplesNA19058, NA18633, NA18948, NA19064
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660108
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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