A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4001263



Internal ID11760610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17224418..17224418hg38UCSC Ensembl
chr22:17705308..17705308hg19UCSC Ensembl
chr22:16085308..16085308hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38332
hg19332
hg18332
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1019314
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4001263
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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