A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14649890



Internal ID5387203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132688042..132708784hg38UCSC Ensembl
chr12:133264628..133285370hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3820743
hg1920743
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631309
Supporting Variants
SamplesNA18934
Known GenesPXMP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14649890
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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