A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628870



Internal ID6669011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:24388688..24426135hg38UCSC Ensembl
chr12:24541622..24579069hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3837448
hg1937448
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14414356
SamplesHG03765
Known GenesSOX5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628870
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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