A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1005765



Internal ID6717885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:117744802..117752725hg38UCSC Ensembl
Outerchr11:117615517..117623440hg19UCSC Ensembl
Outerchr11:117120727..117128650hg18UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg387924
hg197924
hg187924
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564916
SamplesHuRef
Known GenesDSCAML1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1005765
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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