A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591847



Internal ID6632131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:105891092..105931420hg38UCSC Ensembl
chr2:106507548..106547876hg19UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg3840329
hg1940329
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10600413, essv10600411, essv10600412, essv10600410, essv10600409
SamplesHG02977, NA19147, HG02580, NA18501, HG02971
Known GenesNCK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591847
Frequency
Sample Size2504
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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