A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14350980



Internal ID2672027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:8033080..8055775hg38UCSC Ensembl
chr12:8185676..8208371hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3822696
hg1922696
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628457
Supporting Variants
SamplesHG02367
Known GenesFOXJ2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14350980
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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