A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3578673



Internal ID7050055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:8449526..8449832hg38UCSC Ensembl
chr19:8514410..8514716hg19UCSC Ensembl
chr19:8420410..8420716hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38307
hg19307
hg18307
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv989310
Supporting Variants
SamplesHuRef
Known GenesHNRNPM
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3578673
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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