A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4240195



Internal ID11522733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:17659247..17659247hg38UCSC Ensembl
chr20:17639892..17639892hg19UCSC Ensembl
chr20:17587892..17587892hg18UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38450
hg19450
hg18450
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1521395
Supporting Variants
SamplesHuRef
Known GenesRRBP1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4240195
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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