A curated catalogue of human genomic structural variation




Variant Details

Variant: esv988662



Internal ID7075818
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 Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564073
SamplesHuRef
Known GenesDDHD1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv988662
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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