A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1001661



Internal ID6713795
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3572484
SamplesHuRef
Known GenesCACNB2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1001661
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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