A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3549472



Internal ID18750548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:80816334..80816781hg38UCSC Ensembl
Outerchr12:80816319..80816814hg38UCSC Ensembl
Innerchr12:81210113..81210560hg19UCSC Ensembl
Outerchr12:81210098..81210593hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38496
hg19496
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9748219
Samples
Known GenesLIN7A
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3549472
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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