A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629572



Internal ID6669711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:55331815..55344251hg38UCSC Ensembl
chr12:55725599..55738035hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg3812437
hg1912437
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14485714
SamplesHG03844
Known GenesOR6C3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629572
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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