A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13412189



Internal ID603507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:17581661..17633785hg38UCSC Ensembl
chr9:17581659..17633783hg19UCSC Ensembl
Cytoband9p22.2
Allele length
AssemblyAllele length
hg3852125
hg1952125
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3619847
Supporting Variants
SamplesHG00263
Known GenesSH3GL2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13412189
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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