A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2861013



Internal ID10533993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:140834461..140848573hg38UCSC Ensembl
Outerchr5:140214046..140228158hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3814113
hg1914113
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7130580
SamplesHuRef
Known GenesPCDHA1, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)esv2861013
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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