A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7130913



Internal ID10062509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:376503..376552hg38UCSC Ensembl
Outerchr5:376618..376667hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2861346
Supporting Variants
SamplesHuRef
Known GenesAHRR
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)essv7130913
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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