A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3545976



Internal ID18400366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:18214150..18214654hg38UCSC Ensembl
Outerchr10:18214032..18214726hg38UCSC Ensembl
Innerchr10:18503079..18503583hg19UCSC Ensembl
Outerchr10:18502961..18503655hg19UCSC Ensembl
Cytoband10p12.33
Allele length
AssemblyAllele length
hg38695
hg19695
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9744723
Samples
Known GenesCACNB2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3545976
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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