A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3550081



Internal ID18404471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:132303994..132305318hg38UCSC Ensembl
Outerchr12:132303938..132305577hg38UCSC Ensembl
Innerchr12:132880580..132881904hg19UCSC Ensembl
Outerchr12:132880524..132882163hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg381640
hg191640
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9748828
Samples
Known GenesGALNT9
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3550081
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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