A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3546549



Internal ID18400939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:79717745..79742744hg38UCSC Ensembl
Outerchr10:79711745..79748244hg38UCSC Ensembl
Innerchr10:81477501..81502500hg19UCSC Ensembl
Outerchr10:81471501..81508000hg19UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg3836500
hg1936500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9745296
Samples
Known GenesNUTM2B
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3546549
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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