A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1447823



Internal ID1453967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:3513759..3513812hg19UCSC Ensembl
chr4:3483557..3483610hg18UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg1954
hg1854
Variant TypeCNV Deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv4016502
SamplesHuRef
Known GenesLRPAP1
Method
AnalysisRegion identical to calls - DGVa curated
PlatformSanger Sequencing
Comments
ReferenceLevy et al 2007
Pubmed ID17803354
Accession Number(s)esv1447823
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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