A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3631333



Internal ID6671460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:133179691..133224295hg38UCSC Ensembl
chr12:133756277..133800881hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3844605
hg1944605
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14650408, essv14650409
SamplesNA19238, HG01805
Known GenesANHX, ZNF268
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3631333
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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