A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1002231



Internal ID7067347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:100871983..100876142hg38UCSC Ensembl
Outerchr14:101338320..101342479hg19UCSC Ensembl
Outerchr14:100408073..100412232hg18UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg382681
hg192681
hg182681
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563710
SamplesHuRef
Known GenesMIR337, MIR665
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1002231
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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