A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1588507



Internal ID12404942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:18442924..18442998hg38UCSC Ensembl
chr10:18731853..18731927hg19UCSC Ensembl
chr10:18771859..18771933hg18UCSC Ensembl
Cytoband10p12.31
Allele length
AssemblyAllele length
hg3875
hg1975
hg1875
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3707827
SamplesHuRef
Known GenesCACNB2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1588507
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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