A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1484590



Internal ID12301027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:31925171..31925171hg38UCSC Ensembl
chr8:31782687..31782687hg19UCSC Ensembl
chr8:31902229..31902229hg18UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg38127
hg19127
hg18127
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3994010
SamplesHuRef
Known GenesNRG1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1484590
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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