A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14901136



Internal ID536887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:112656199..112668144hg38UCSC Ensembl
chr13:113310513..113322458hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3811946
hg1911946
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633583
Supporting Variants
SamplesHG00234
Known GenesC13orf35
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14901136
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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