A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3564253



Internal ID7035353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:51767512..51774481hg38UCSC Ensembl
Outerchr14:52234230..52241199hg19UCSC Ensembl
Outerchr14:51303980..51310949hg18UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg386970
hg196970
hg186970
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv989374
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3564253
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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