A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14656701



Internal ID4423424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:19177537..19197238hg38UCSC Ensembl
Innerchr13:19177560..19197216hg38UCSC Ensembl
Outerchr13:19177515..19197261hg38UCSC Ensembl
chr13:19751677..19771378hg19UCSC Ensembl
Innerchr13:19751700..19771356hg19UCSC Ensembl
Outerchr13:19751655..19771401hg19UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg3819702
hg1919702
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631382
Supporting Variants
SamplesHG03940
Known GenesTUBA3C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14656701
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