A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3634723



Internal ID6674840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:63305196..63388109hg38UCSC Ensembl
chr14:63771914..63854827hg19UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg3882914
hg1982914
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15039401, essv15039402
SamplesNA06989, NA20287
Known GenesGPHB5, PPP2R5E
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3634723
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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