A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14909143



Internal ID1112511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:113734588..113747254hg38UCSC Ensembl
chr13:114437561..114450227hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3812667
hg1912667
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633617
Supporting Variants
SamplesHG00739
Known GenesGRK1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14909143
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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