A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1001650



Internal ID7066774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:37364297..37370091hg38UCSC Ensembl
Outerchr22:37760337..37766131hg19UCSC Ensembl
Outerchr22:36090283..36096077hg18UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg385795
hg195795
hg185795
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564829
SamplesHuRef
Known GenesELFN2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1001650
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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