A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639964



Internal ID7026742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:12199433..12207922hg38UCSC Ensembl
chr17:12102750..12111239hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg388490
hg198490
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15612895, essv15612896
SamplesNA20760, HG01589
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639964
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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