A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3564073



Internal ID7035173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:53135385..53142256hg38UCSC Ensembl
Outerchr14:53602103..53608974hg19UCSC Ensembl
Outerchr14:52671853..52678724hg18UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg386872
hg196872
hg186872
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv988662
Supporting Variants
SamplesHuRef
Known GenesDDHD1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3564073
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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