A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1284753



Internal ID5414857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:158659597..158659925hg38UCSC Ensembl
chr1:158629387..158629715hg19UCSC Ensembl
chr1:156896011..156896339hg18UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg38329
hg19329
hg18329
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3882204
SamplesHuRef
Known GenesSPTA1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1284753
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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