A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591767



Internal ID6979095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:101402309..101533995hg38UCSC Ensembl
chr2:102018771..102150457hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38131687
hg19131687
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10597337
SamplesHG01807
Known GenesRFX8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591767
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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