A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3571747



Internal ID7043129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:52696931..52696931hg38UCSC Ensembl
chr3:52730947..52730947hg19UCSC Ensembl
chr3:52705987..52705987hg18UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3887
hg1987
hg1887
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv991877
Supporting Variants
SamplesHuRef
Known GenesGLT8D1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3571747
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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