A curated catalogue of human genomic structural variation




Variant Details

Variant: esv993561



Internal ID7062473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:35005035..35019638hg38UCSC Ensembl
Outerchr14:35474241..35488844hg19UCSC Ensembl
Outerchr14:34543992..34558595hg18UCSC Ensembl
Cytoband14q13.2
Allele length
AssemblyAllele length
hg3814604
hg1914604
hg1814604
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565087
SamplesHuRef
Known GenesSRP54
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv993561
Frequency
Sample Size3
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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