A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3598179



Internal ID6985315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:151593790..151695166hg38UCSC Ensembl
chr3:151311578..151412954hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg38101377
hg19101377
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11185935
SamplesHG02763
Known GenesMIR548H2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3598179
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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