A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14909842



Internal ID4911659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:113842169..113845689hg38UCSC Ensembl
chr13:114545142..114548662hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg383521
hg193521
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633625
Supporting Variants
SamplesNA19393
Known GenesGAS6, GAS6-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14909842
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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