A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12134528



Internal ID4293625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:173369588..173376926hg38UCSC Ensembl
Innerchr5:173369588..173376926hg38UCSC Ensembl
Outerchr5:173369337..173377161hg38UCSC Ensembl
chr5:172796591..172803929hg19UCSC Ensembl
Innerchr5:172796591..172803929hg19UCSC Ensembl
Outerchr5:172796340..172804164hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg387339
hg197339
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607613
Supporting Variants
SamplesHG03854
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12134528
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