A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3548905



Internal ID18749981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:25494567..25501640hg38UCSC Ensembl
Outerchr12:25494067..25502566hg38UCSC Ensembl
Innerchr12:25647501..25654574hg19UCSC Ensembl
Outerchr12:25647001..25655500hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg388500
hg198500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9747652
Samples
Known GenesIFLTD1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3548905
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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