A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12126988



Internal ID2128804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:168903334..168904074hg38UCSC Ensembl
Innerchr5:168903373..168904036hg38UCSC Ensembl
Outerchr5:168903296..168904113hg38UCSC Ensembl
chr5:168330339..168331079hg19UCSC Ensembl
Innerchr5:168330378..168331041hg19UCSC Ensembl
Outerchr5:168330301..168331118hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38741
hg19741
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607540
Supporting Variants
SamplesHG02012
Known GenesSLIT3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12126988
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