A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3631424



Internal ID6671550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:20190147..20280383hg38UCSC Ensembl
chr13:20764286..20854522hg19UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg3890237
hg1990237
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14658003, essv14658002
SamplesHG00717, HG02855
Known GenesGJB2, GJB6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3631424
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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