A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4242928



Internal ID11525466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:136074463..136074463hg38UCSC Ensembl
chr9:138966309..138966309hg19UCSC Ensembl
chr9:138106130..138106130hg18UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38480
hg19480
hg18480
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1257856
Supporting Variants
SamplesHuRef
Known GenesNACC2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4242928
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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