A curated catalogue of human genomic structural variation




Variant Details

Variant: esv996362



Internal ID6732306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:6597567..6612421hg38UCSC Ensembl
Outerchr11:6618797..6633652hg19UCSC Ensembl
Outerchr11:6575373..6590228hg18UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3814855
hg1914856
hg1814856
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564994
SamplesHuRef
Known GenesILK, RRP8, TAF10
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv996362
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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