A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1348770



Internal ID12511892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:127868794..127868794hg38UCSC Ensembl
chr8:128881040..128881040hg19UCSC Ensembl
chr8:128950222..128950222hg18UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg3886
hg1986
hg1886
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3979462
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1348770
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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