A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1183049



Internal ID1555393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:3524317..3524385hg19UCSC Ensembl
chr4:3494115..3494183hg18UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg1969
hg1869
Variant TypeCNV Deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv4005061
SamplesHuRef
Known GenesLRPAP1
Method
AnalysisRegion identical to calls - DGVa curated
PlatformSanger Sequencing
Comments
ReferenceLevy et al 2007
Pubmed ID17803354
Accession Number(s)esv1183049
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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