A curated catalogue of human genomic structural variation




Variant Details

Variant: esv991877



Internal ID7077551
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3571747
SamplesHuRef
Known GenesGLT8D1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv991877
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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