A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594622



Internal ID6634898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:231395853..231408141hg38UCSC Ensembl
chr2:232260564..232272852hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3812289
hg1912289
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10875685
SamplesNA19669
Known GenesB3GNT7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594622
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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