A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3564575



Internal ID6689271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:100147472..100155026hg38UCSC Ensembl
Outerchr14:100613809..100621363hg19UCSC Ensembl
Outerchr14:99683562..99691116hg18UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg387555
hg197555
hg187555
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1000926
Supporting Variants
SamplesHuRef
Known GenesDEGS2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3564575
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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