A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4109876



Internal ID11305313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:112866944..112866944hg38UCSC Ensembl
chr9:115629224..115629224hg19UCSC Ensembl
chr9:114669045..114669045hg18UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg3860
hg1960
hg1860
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1549334
Supporting Variants
SamplesHuRef
Known GenesSNX30
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4109876
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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