A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3541998



Internal ID18396388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:82099430..82099743hg38UCSC Ensembl
Outerchr7:82099355..82099792hg38UCSC Ensembl
Innerchr7:81728746..81729059hg19UCSC Ensembl
Outerchr7:81728671..81729108hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38438
hg19438
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9740745
Samples
Known GenesCACNA2D1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3541998
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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