A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628943



Internal ID6669083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:27501670..27543029hg38UCSC Ensembl
chr12:27654603..27695962hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg3841360
hg1941360
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14417815
SamplesNA19717
Known GenesPPFIBP1, SMCO2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628943
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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