A curated catalogue of human genomic structural variation




Variant Details

Variant: esv989460



Internal ID7076161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:45391525..45407029hg38UCSC Ensembl
Outerchr7:45431124..45446628hg19UCSC Ensembl
Outerchr7:45397649..45413153hg18UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg3811126
hg1911126
hg1811126
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565419
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv989460
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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