A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628321



Internal ID6668464
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14337523
SamplesHG02143
Known GenesFKBP4, FOXM1, ITFG2, LOC100507424, NRIP2, RHNO1, TULP3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628321
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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