A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585399



Internal ID292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:91885243..91885770hg38UCSC Ensembl
Outerchr14:91884888..91887327hg38UCSC Ensembl
Innerchr14:92351587..92352114hg19UCSC Ensembl
Outerchr14:92351232..92353671hg19UCSC Ensembl
Innerchr14:91421340..91421867hg18UCSC Ensembl
Outerchr14:91420985..91423424hg18UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg382440
hg192440
hg182440
Variant TypeCNV loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275270
Supporting Variants
Samples
Known GenesFBLN5
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)essv2585399
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer