A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3566330



Internal ID7037712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:154189480..154189480hg38UCSC Ensembl
chr4:155110632..155110632hg19UCSC Ensembl
chr4:155330082..155330082hg18UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg3859
hg1959
hg1859
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1009091
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3566330
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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