A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3621819



Internal ID6661995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:128877077..128887549hg38UCSC Ensembl
chr9:131639356..131649828hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg3810473
hg1910473
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13625040
SamplesNA12283
Known GenesCCBL1, LRRC8A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3621819
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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