A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3556457



Internal ID18410847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:44970078..44970936hg38UCSC Ensembl
Outerchr19:44969885..44971080hg38UCSC Ensembl
Innerchr19:45473335..45474193hg19UCSC Ensembl
Outerchr19:45473142..45474337hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg381196
hg191196
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv224e215
Supporting Variantsessv9755204
Samples
Known GenesCLPTM1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3556457
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