A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647598



Internal ID7034338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:32004592..32053519hg38UCSC Ensembl
chr22:32400579..32449506hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3848928
hg1948928
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16404303, essv16404304
SamplesHG02661, HG02660
Known GenesSLC5A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647598
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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