A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586745



Internal ID6974263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:88791510..88834409hg38UCSC Ensembl
chr1:89257193..89300092hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg3842900
hg1942900
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10009976, essv10009975, essv10009977, essv10009979, essv10009978
SamplesNA18998, NA19066, HG00589, NA18985, NA19059
Known GenesPKN2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586745
Frequency
Sample Size2504
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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