A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9841600



Internal ID4100836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:2097394..2121301hg38UCSC Ensembl
chr1:2028833..2052740hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3823908
hg1923908
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585022
Supporting Variants
SamplesHG03722
Known GenesPRKCZ
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9841600
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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