A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1004751



Internal ID7069847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:138242205..138259785hg38UCSC Ensembl
Outerchr2:138999775..139017355hg19UCSC Ensembl
Outerchr2:138716245..138733825hg18UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg3817581
hg1917581
hg1817581
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565649
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1004751
Frequency
Sample Size3
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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