A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14741410



Internal ID2487208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:56735099..56738583hg38UCSC Ensembl
Innerchr13:56735149..56738534hg38UCSC Ensembl
Outerchr13:56735050..56738633hg38UCSC Ensembl
chr13:57309233..57312717hg19UCSC Ensembl
Innerchr13:57309283..57312668hg19UCSC Ensembl
Outerchr13:57309184..57312767hg19UCSC Ensembl
Cytoband13q21.1
Allele length
AssemblyAllele length
hg383485
hg193485
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632190
Supporting Variants
SamplesHG02187
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14741410
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