A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3542001



Internal ID18396391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:82326613..82326849hg38UCSC Ensembl
Outerchr7:82326570..82326907hg38UCSC Ensembl
Innerchr7:81955929..81956165hg19UCSC Ensembl
Outerchr7:81955886..81956223hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38338
hg19338
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9740748
Samples
Known GenesCACNA2D1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3542001
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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