A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3541628



Internal ID18742704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:51203222..51203467hg38UCSC Ensembl
Outerchr7:51203178..51203506hg38UCSC Ensembl
Innerchr7:51270919..51271164hg19UCSC Ensembl
Outerchr7:51270875..51271203hg19UCSC Ensembl
Cytoband7p12.1
Allele length
AssemblyAllele length
hg38329
hg19329
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9740375
Samples
Known GenesCOBL
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3541628
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