A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14763079



Internal ID4377370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:61011323..61036122hg38UCSC Ensembl
chr13:61585457..61610256hg19UCSC Ensembl
Cytoband13q21.2
Allele length
AssemblyAllele length
hg3824800
hg1924800
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632323
Supporting Variants
SamplesHG03905
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14763079
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