A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14669438



Internal ID4671254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:23357936..23465792hg38UCSC Ensembl
chr13:23932075..24039931hg19UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg38107857
hg19107857
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631519
Supporting Variants
SamplesHG03571
Known GenesSACS, SACS-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14669438
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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