A curated catalogue of human genomic structural variation




Variant Details

Variant: esv992888



Internal ID6728849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:64857165..64858722hg38UCSC Ensembl
Outerchr11:64624637..64626194hg19UCSC Ensembl
Outerchr11:64381213..64382770hg18UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg381558
hg191558
hg181558
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564701
SamplesHuRef
Known GenesEHD1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv992888
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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