A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3620302



Internal ID6660485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:32556081..32559949hg38UCSC Ensembl
chr9:32556079..32559947hg19UCSC Ensembl
Cytoband9p21.1
Allele length
AssemblyAllele length
hg383869
hg193869
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13451373, essv13451372, essv13451374, essv13451370, essv13451371
SamplesNA19107, HG01083, HG03594, NA12872, NA19758
Known GenesNDUFB6, TOPORS-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3620302
Frequency
Sample Size2504
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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