A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1762654



Internal ID12925772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:9353238..9353320hg38UCSC Ensembl
chr5:9353350..9353432hg19UCSC Ensembl
chr5:9406350..9406432hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg3883
hg1983
hg1883
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4142922
SamplesHuRef
Known GenesSEMA5A
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1762654
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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