A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628272



Internal ID6668415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1194932..1242511hg38UCSC Ensembl
chr12:1304098..1351677hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3847580
hg1947580
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14333427, essv14333428
SamplesNA19435, HG00452
Known GenesERC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628272
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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