A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14725879



Internal ID4727695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:49911230..49913600hg38UCSC Ensembl
Innerchr13:49911288..49913542hg38UCSC Ensembl
Outerchr13:49911172..49913658hg38UCSC Ensembl
chr13:50485366..50487736hg19UCSC Ensembl
Innerchr13:50485424..50487678hg19UCSC Ensembl
Outerchr13:50485308..50487794hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg382371
hg192371
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632059
Supporting Variants
SamplesHG04225
Known GenesSPRYD7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14725879
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