A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14691662



Internal ID4693478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:36305043..36307489hg38UCSC Ensembl
Innerchr13:36305082..36307451hg38UCSC Ensembl
Outerchr13:36305005..36307528hg38UCSC Ensembl
chr13:36879180..36881626hg19UCSC Ensembl
Innerchr13:36879219..36881588hg19UCSC Ensembl
Outerchr13:36879142..36881665hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg382447
hg192447
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631781
Supporting Variants
SamplesHG03868
Known GenesSPG20
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14691662
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