A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590555



Internal ID6630841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:44306026..44320888hg38UCSC Ensembl
chr2:44533165..44548027hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3814863
hg1914863
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10483454
SamplesNA19818
Known GenesPREPL, SLC3A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590555
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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