A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3541556



Internal ID18395946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:43586902..43591901hg38UCSC Ensembl
Outerchr7:43584902..43592901hg38UCSC Ensembl
Innerchr7:43626501..43631500hg19UCSC Ensembl
Outerchr7:43624501..43632500hg19UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg388000
hg198000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9740303
Samples
Known GenesSTK17A
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3541556
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer