A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5464791



Internal ID9395653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:160103065..160108272hg38UCSC Ensembl
Outerchr5:160102908..160108425hg38UCSC Ensembl
Innerchr5:159530072..159535279hg19UCSC Ensembl
Outerchr5:159529915..159535432hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg385518
hg195518
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2671720
Supporting Variants
SamplesNA18599
Known GenesPWWP2A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5464791
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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