A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5530926



Internal ID8508329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:146055970..149045295hg38UCSC Ensembl
chr1:144839149..145379033hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg382989326
hg19539885
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2668153
Supporting Variants
SamplesNA19914
Known GenesLOC100288142, LOC101929780, NBPF10, NBPF9, NOTCH2NL, PDE4DIP, SEC22B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5530926
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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