A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3542009



Internal ID18743085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:83420883..83421640hg38UCSC Ensembl
Outerchr7:83420719..83421914hg38UCSC Ensembl
Innerchr7:83050199..83050956hg19UCSC Ensembl
Outerchr7:83050035..83051230hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg381196
hg191196
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9740756
Samples
Known GenesSEMA3E
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3542009
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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