A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14909140



Internal ID4910957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:113724844..113843481hg38UCSC Ensembl
chr13:114427817..114546454hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38118638
hg19118638
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633615
Supporting Variants
SamplesHG00739
Known GenesGAS6, GAS6-AS1, GRK1, LINC00552, TMEM255B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14909140
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer