A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663286



Internal ID9929391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:54146179..54149509hg38UCSC Ensembl
chr1:54611852..54615182hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg383331
hg193331
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv44e199
Supporting Variantsessv6017248, essv5795666, essv5436639, essv6355715, essv5938591, essv5398347, essv5414225, essv5682218
SamplesNA19916, NA19904, NA19172, NA19452, HG01108, NA19116, NA19430, NA18511
Known GenesCDCP2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663286
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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