A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1701230



Internal ID12517663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:77323008..77323008hg38UCSC Ensembl
chr3:77372159..77372159hg19UCSC Ensembl
chr3:77454849..77454849hg18UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg38561
hg19561
hg18561
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4047894
SamplesHuRef
Known GenesROBO2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1701230
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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