A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607252



Internal ID6994186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:154923694..154931963hg38UCSC Ensembl
Innerchr5:154923703..154931955hg38UCSC Ensembl
Outerchr5:154923686..154931972hg38UCSC Ensembl
chr5:154303254..154311523hg19UCSC Ensembl
Innerchr5:154303263..154311515hg19UCSC Ensembl
Outerchr5:154303246..154311532hg19UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg388270
hg198270
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12105538, essv12105537
SamplesHG03973, HG03882
Known GenesGEMIN5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607252
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