A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1007391



Internal ID7072485
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3581196
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1007391
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