A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14329468



Internal ID4331284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:157297..251505hg38UCSC Ensembl
chr12:266463..360671hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3894209
hg1994209
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628226
Supporting Variants
SamplesHG00593
Known GenesIQSEC3, SLC6A12, SLC6A13
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14329468
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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