A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3557683



Internal ID18412073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:36484988..36485319hg38UCSC Ensembl
Outerchr21:36484939..36485341hg38UCSC Ensembl
Innerchr21:37857286..37857617hg19UCSC Ensembl
Outerchr21:37857237..37857639hg19UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg38403
hg19403
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9756430
Samples
Known GenesCLDN14
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3557683
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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