A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3583268



Internal ID7054650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:8375519..8375519hg38UCSC Ensembl
chr1:8435579..8435579hg19UCSC Ensembl
chr1:8358166..8358166hg18UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg3856
hg1956
hg1856
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv990980
Supporting Variants
SamplesHuRef
Known GenesRERE
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3583268
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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