A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3581196



Internal ID7052578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:115633644..115634118hg38UCSC Ensembl
chr5:114969341..114969815hg19UCSC Ensembl
chr5:114997240..114997714hg18UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg38475
hg19475
hg18475
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1007391
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3581196
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