A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14344334



Internal ID4233407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:5283096..5293243hg38UCSC Ensembl
chr12:5392262..5402409hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3810148
hg1910148
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628381
Supporting Variants
SamplesHG03808
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14344334
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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