A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605648



Internal ID6992586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:84357070..84360529hg38UCSC Ensembl
Innerchr5:84357081..84360518hg38UCSC Ensembl
Outerchr5:84357059..84360540hg38UCSC Ensembl
chr5:83652888..83656347hg19UCSC Ensembl
Innerchr5:83652899..83656336hg19UCSC Ensembl
Outerchr5:83652877..83656358hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg383460
hg193460
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11959154
SamplesNA19776
Known GenesEDIL3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605648
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