A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1000926



Internal ID6713068
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 Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564575
SamplesHuRef
Known GenesDEGS2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1000926
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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