A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1657415



Internal ID12473847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:144557377..144557377hg38UCSC Ensembl
chr8:145782761..145782761hg19UCSC Ensembl
chr8:145753569..145753569hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38604
hg19604
hg18604
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3860783
SamplesHuRef
Known GenesARHGAP39
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1657415
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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