A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606862



Internal ID6993797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:135418734..135422644hg38UCSC Ensembl
Innerchr5:135418746..135422632hg38UCSC Ensembl
Outerchr5:135418722..135422656hg38UCSC Ensembl
chr5:134754424..134758334hg19UCSC Ensembl
Innerchr5:134754436..134758322hg19UCSC Ensembl
Outerchr5:134754412..134758346hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg383911
hg193911
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1139e214
Supporting Variantsessv12067193, essv12067192
SamplesHG03127, NA19030
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606862
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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