A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13482437



Internal ID5241383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:42830430..42870611hg38UCSC Ensembl
chr9:44100508..44140689hg19UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg3840182
hg1940182
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3620482
Supporting Variants
SamplesNA18630
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13482437
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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