A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14338164



Internal ID2428299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2956686..2971119hg38UCSC Ensembl
chr12:3065852..3080285hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3814434
hg1914434
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628331
Supporting Variants
SamplesHG02143
Known GenesTEAD4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14338164
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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