A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590554



Internal ID6977883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:44290134..44306750hg38UCSC Ensembl
chr2:44517273..44533889hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3816617
hg1916617
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10483453
SamplesNA19818
Known GenesSLC3A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590554
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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