A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1010724



Internal ID7074675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:141257285..141265685hg38UCSC Ensembl
Outerchr2:142014854..142023254hg19UCSC Ensembl
Outerchr2:141731324..141739724hg18UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg388401
hg198401
hg188401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565716
SamplesHuRef
Known GenesLRP1B
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1010724
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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