A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1004840



Internal ID7069936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:70971047..70971682hg38UCSC Ensembl
Outerchr14:71437764..71438399hg19UCSC Ensembl
Outerchr14:70507517..70508152hg18UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg38636
hg19636
hg18636
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564671
SamplesHuRef
Known GenesPCNX
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1004840
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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