A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11984494



Internal ID5532133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:96911798..96922208hg38UCSC Ensembl
Innerchr5:96912298..96921708hg38UCSC Ensembl
Outerchr5:96910798..96923208hg38UCSC Ensembl
chr5:96247502..96257912hg19UCSC Ensembl
Innerchr5:96248002..96257412hg19UCSC Ensembl
Outerchr5:96246502..96258912hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg3810411
hg1910411
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605868
Supporting Variants
SamplesNA18998
Known GenesERAP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11984494
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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