A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3580652



Internal ID7052034
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 StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1003046
Supporting Variants
SamplesHuRef
Known GenesRAD51B
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3580652
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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