A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671445



Internal ID9937550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:47886895..47887587hg38UCSC Ensembl
chr1:48352567..48353259hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg38693
hg19693
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5984290, essv5553565, essv6519966
SamplesNA18956, NA18535, NA18562
Known GenesTRABD2B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671445
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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