A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14657998



Internal ID4659814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:20145912..20223722hg38UCSC Ensembl
chr13:20720051..20797861hg19UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg3877811
hg1977811
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631421
Supporting Variants
SamplesHG02855
Known GenesGJA3, GJB2, GJB6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14657998
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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