A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14879606



Internal ID6935117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:101386641..101391787hg38UCSC Ensembl
Innerchr13:101386641..101391787hg38UCSC Ensembl
Outerchr13:101386141..101392287hg38UCSC Ensembl
chr13:102038992..102044138hg19UCSC Ensembl
Innerchr13:102038992..102044138hg19UCSC Ensembl
Outerchr13:102038492..102044638hg19UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg385147
hg195147
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633362
Supporting Variants
SamplesNA21124
Known GenesNALCN
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14879606
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