A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3631145



Internal ID7017957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:128718037..128726092hg38UCSC Ensembl
chr12:129202582..129210637hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg388056
hg198056
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14629844, essv14629843, essv14629847, essv14629839, essv14629840, essv14629841, essv14629846, essv14629842, essv14629845
SamplesNA18917, HG01124, HG03547, HG02878, HG01894, NA19835, HG03084, NA19185, HG01886
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3631145
Frequency
Sample Size2504
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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