A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1062211



Internal ID12225336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:190430864..190430864hg38UCSC Ensembl
chr2:191295590..191295590hg19UCSC Ensembl
chr2:191003835..191003835hg18UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg3895
hg1995
hg1895
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3786492
SamplesHuRef
Known GenesMFSD6
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1062211
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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