A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13532319



Internal ID3534135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:77947131..77992329hg38UCSC Ensembl
chr9:80562047..80607245hg19UCSC Ensembl
Cytoband9q21.2
Allele length
AssemblyAllele length
hg3845199
hg1945199
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3620785
Supporting Variants
SamplesHG00478
Known GenesGNAQ
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13532319
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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