A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3572485



Internal ID7043867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:88423674..88423831hg38UCSC Ensembl
chr14:88890018..88890175hg19UCSC Ensembl
chr14:87959771..87959928hg18UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg38158
hg19158
hg18158
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv994338
Supporting Variants
SamplesHuRef
Known GenesSPATA7
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3572485
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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