A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1979371



Internal ID2450851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:37864407..37864757hg19UCSC Ensembl
Outerchr21:37864255..37864900hg19UCSC Ensembl
Innerchr21:36786277..36786627hg18UCSC Ensembl
Outerchr21:36786125..36786770hg18UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv4670249
SamplesNA18507
Known GenesCLDN14
Method
AnalysisRegion identical to calls - DGVa curated
PlatformIllumina GA1 DNA Sequencer
Comments
ReferenceBentley_et_al_2008
Pubmed ID18987734
Accession Number(s)esv1979371
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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