A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3994010



Internal ID11421177
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1484590
Supporting Variants
SamplesHuRef
Known GenesNRG1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3994010
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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