A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3585729



Internal ID6710425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:184088659..184088659hg38UCSC Ensembl
chr1:184057793..184057793hg19UCSC Ensembl
chr1:182324416..182324416hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1010925
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3585729
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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