A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3561074



Internal ID18415464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:225016600..225016654hg38UCSC Ensembl
Outerchr2:225016598..225016655hg38UCSC Ensembl
Innerchr2:225881317..225881371hg19UCSC Ensembl
Outerchr2:225881315..225881372hg19UCSC Ensembl
Cytoband2q36.2
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9759821
Samples
Known GenesDOCK10
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3561074
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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