A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594255



Internal ID6981575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:214232173..214258207hg38UCSC Ensembl
chr2:215096897..215122931hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3826035
hg1926035
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10841722, essv10841721, essv10841720, essv10841724, essv10841723, essv10841725
SamplesNA12842, HG03757, HG02491, NA21130, NA20764, NA20503
Known GenesSPAG16
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594255
Frequency
Sample Size2504
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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