A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13633344



Internal ID3635160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:131733919..131887845hg38UCSC Ensembl
chr9:134609306..134763232hg19UCSC Ensembl
Cytoband9q34.13
Allele length
AssemblyAllele length
hg38153927
hg19153927
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3621898
Supporting Variants
SamplesNA21088
Known GenesMED27, RAPGEF1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13633344
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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