A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3572484



Internal ID6697180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:18442941..18443016hg38UCSC Ensembl
chr10:18731870..18731945hg19UCSC Ensembl
chr10:18771876..18771951hg18UCSC Ensembl
Cytoband10p12.31
Allele length
AssemblyAllele length
hg3876
hg1976
hg1876
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1001661
Supporting Variants
SamplesHuRef
Known GenesCACNB2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3572484
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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