A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1003046



Internal ID7068154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:68136315..68137014hg38UCSC Ensembl
chr14:68603032..68603731hg19UCSC Ensembl
chr14:67672785..67673484hg18UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg38700
hg19700
hg18700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3580652
SamplesHuRef
Known GenesRAD51B
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1003046
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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