A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1116942



Internal ID12280066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:95045980..95045980hg38UCSC Ensembl
chr1:95511536..95511536hg19UCSC Ensembl
chr1:95284124..95284124hg18UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg3862
hg1962
hg1862
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3946796
SamplesHuRef
Known GenesALG14
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1116942
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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