A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14880990



Internal ID4882806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:102848582..102849613hg38UCSC Ensembl
Innerchr13:102848582..102849613hg38UCSC Ensembl
Outerchr13:102848403..102849878hg38UCSC Ensembl
chr13:103500932..103501963hg19UCSC Ensembl
Innerchr13:103500932..103501963hg19UCSC Ensembl
Outerchr13:103500753..103502228hg19UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg381032
hg191032
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633382
Supporting Variants
SamplesHG00173
Known GenesBIVM-ERCC5, ERCC5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14880990
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