A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628457



Internal ID7015281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:8033080..8055775hg38UCSC Ensembl
chr12:8185676..8208371hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3822696
hg1922696
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14350980
SamplesHG02367
Known GenesFOXJ2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628457
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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