A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628231



Internal ID7015055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:324173..346524hg38UCSC Ensembl
chr12:433339..455690hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3822352
hg1922352
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14329481
SamplesNA18522
Known GenesKDM5A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628231
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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