A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1240932



Internal ID12057369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:201766737..201766737hg38UCSC Ensembl
chr2:202631460..202631460hg19UCSC Ensembl
chr2:202339705..202339705hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38321
hg19321
hg18321
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3857739
SamplesHuRef
Known GenesALS2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1240932
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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