A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3575233



Internal ID7046615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:2085590..2085590hg38UCSC Ensembl
chr1:2017029..2017029hg19UCSC Ensembl
chr1:2006889..2006889hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38112
hg19112
hg18112
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1002714
Supporting Variants
SamplesHuRef
Known GenesPRKCZ
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3575233
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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