A curated catalogue of human genomic structural variation




Variant Details

Variant: esv993927



Internal ID6729882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:70861407..70874735hg38UCSC Ensembl
Outerchr11:70707512..70720840hg19UCSC Ensembl
Outerchr11:70385160..70398488hg18UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg3813329
hg1913329
hg1813329
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565487
SamplesHuRef
Known GenesMIR3664, SHANK2, SHANK2-AS3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv993927
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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