A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14337523



Internal ID4339339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2796341..2902786hg38UCSC Ensembl
chr12:2905507..3011952hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38106446
hg19106446
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628321
Supporting Variants
SamplesHG02143
Known GenesFKBP4, FOXM1, ITFG2, LOC100507424, NRIP2, RHNO1, TULP3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14337523
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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