A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1232411



Internal ID12395534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:222616987..222617276hg38UCSC Ensembl
chr2:223481706..223481995hg19UCSC Ensembl
chr2:223189950..223190239hg18UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg38290
hg19290
hg18290
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4163573
SamplesHuRef
Known GenesFARSB
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1232411
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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