A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7337107



Internal ID10268703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:33688357..33688424hg38UCSC Ensembl
chr5:33688462..33688529hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3067540
Supporting Variants
SamplesHuRef
Known GenesADAMTS12
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)essv7337107
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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