A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630816



Internal ID7017631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:114587158..114606877hg38UCSC Ensembl
chr12:115024963..115044682hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg3819720
hg1919720
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14608984, essv14608983
SamplesHG03691, HG02108
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630816
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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