A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14478857



Internal ID5467012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50373497..50390901hg38UCSC Ensembl
chr12:50767280..50784684hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3817405
hg1917405
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629479
Supporting Variants
SamplesNA18972
Known GenesFAM186A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14478857
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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