A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1347031



Internal ID12163467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:24445282..24445282hg38UCSC Ensembl
chr8:24302795..24302795hg19UCSC Ensembl
chr8:24358740..24358740hg18UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3655535
SamplesHuRef
Known GenesADAM7
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1347031
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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