A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7141135



Internal ID10419417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:8225404..8237404hg38UCSC Ensembl
Innerchr12:8378000..8390000hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3812001
hg1912001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2871568
Supporting Variants
SamplesHuRef
Known GenesFAM86FP, FAM90A1
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)essv7141135
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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