A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3631156



Internal ID6671287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:128909343..129187331hg38UCSC Ensembl
chr12:129393888..129671876hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38277989
hg19277989
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14630102
SamplesHG01894
Known GenesGLT1D1, LOC283352, TMEM132D
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3631156
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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