A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3542193



Internal ID18743269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:102848274..102848593hg38UCSC Ensembl
Outerchr7:102848193..102848636hg38UCSC Ensembl
Innerchr7:102488721..102489040hg19UCSC Ensembl
Outerchr7:102488640..102489083hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38444
hg19444
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9740940
Samples
Known GenesFBXL13
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3542193
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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