A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3978663



Internal ID11436524
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1412340
Supporting Variants
SamplesHuRef
Known GenesNRG1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3978663
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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