A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13412192



Internal ID4867748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:17582182..17636018hg38UCSC Ensembl
chr9:17582180..17636016hg19UCSC Ensembl
Cytoband9p22.2
Allele length
AssemblyAllele length
hg3853837
hg1953837
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3619848
Supporting Variants
SamplesNA12287
Known GenesSH3GL2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13412192
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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