A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1412340



Internal ID12228776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:32514938..32514938hg38UCSC Ensembl
chr8:32372454..32372454hg19UCSC Ensembl
chr8:32491996..32491996hg18UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg38199
hg19199
hg18199
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3978663
SamplesHuRef
Known GenesNRG1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1412340
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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