A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv66e199



Internal ID20123368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:146055970..149056514hg38UCSC Ensembl
chr1:144827926..145379033hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg383000545
hg19551108
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2668153, esv2666358
SamplesNA19914, NA19734
Known GenesLOC100288142, LOC101929780, NBPF10, NBPF8, NBPF9, NOTCH2NL, PDE4DIP, SEC22B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv66e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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