A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607313



Internal ID6647554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:157276007..157280334hg38UCSC Ensembl
chr5:156703017..156707344hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg384328
hg194328
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12111493, essv12111491, essv12111492
SamplesNA12761, HG04183, HG00125
Known GenesCYFIP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607313
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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