A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590242



Internal ID6630529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:32158028..32203815hg38UCSC Ensembl
chr2:32383097..32428884hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg3845788
hg1945788
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10447667, essv10447666
SamplesHG00500, HG02649
Known GenesSLC30A6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590242
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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