A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4030261



Internal ID11384927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:79685032..79685032hg38UCSC Ensembl
chr18:77445032..77445032hg19UCSC Ensembl
chr18:75546020..75546020hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38231
hg19231
hg18231
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1046194
Supporting Variants
SamplesHuRef
Known GenesCTDP1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4030261
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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