A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14650408



Internal ID4652224
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631333
Supporting Variants
SamplesHG01805
Known GenesANHX, ZNF268
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14650408
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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