A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639787



Internal ID6679877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:4541150..4555039hg38UCSC Ensembl
chr17:4444445..4458334hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3813890
hg1913890
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15595095
SamplesHG01804
Known GenesMYBBP1A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639787
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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