A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640379



Internal ID7027154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:32158325..32164981hg38UCSC Ensembl
chr17:30485344..30492000hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg386657
hg196657
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15659291, essv15659290
SamplesHG02012, HG03199
Known GenesRHOT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640379
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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