A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3631032



Internal ID7017846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:125022783..125033641hg38UCSC Ensembl
chr12:125507329..125518187hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3810859
hg1910859
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14624265
SamplesHG02395
Known GenesBRI3BP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3631032
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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