A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628270



Internal ID6668413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1146921..1241574hg38UCSC Ensembl
chr12:1256087..1350740hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3894654
hg1994654
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14333159
SamplesHG00452
Known GenesERC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628270
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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