A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3620781



Internal ID6660962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:77892896..78039957hg38UCSC Ensembl
chr9:80507812..80654873hg19UCSC Ensembl
Cytoband9q21.2
Allele length
AssemblyAllele length
hg38147062
hg19147062
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13532315
SamplesHG00478
Known GenesGNAQ
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3620781
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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