A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1206120



Internal ID1385712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:49001595..49001913hg19UCSC Ensembl
chr13:47899596..47899914hg18UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg19319
hg18319
Variant TypeCNV Deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv3969497
SamplesHuRef
Known GenesLPAR6, RB1
Method
AnalysisRegion identical to calls - DGVa curated
PlatformSanger Sequencing
Comments
ReferenceLevy et al 2007
Pubmed ID17803354
Accession Number(s)esv1206120
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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