A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7133357



Internal ID10411639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:120286659..120305313hg38UCSC Ensembl
Innerchr1:144692000..144710724hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3818655
hg1918725
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2863790
Supporting Variants
SamplesHuRef
Known GenesLOC100288142, NBPF8, NBPF9
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)essv7133357
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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