A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3247385



Internal ID11267051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:110313540..110313880hg38UCSC Ensembl
Outerchr13:110965887..110966227hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38341
hg19341
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7516952
SamplesHuRef
Known GenesCOL4A2
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)esv3247385
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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