A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640501



Internal ID6680588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:37639510..37776211hg38UCSC Ensembl
chr17:35999539..36136181hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38136702
hg19136643
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15669354, essv15669353
SamplesNA20362, NA20359
Known GenesDDX52, HNF1B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640501
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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