A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3575595



Internal ID7046977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:3293939..3293949hg38UCSC Ensembl
chr4:3295666..3295676hg19UCSC Ensembl
chr4:3265464..3265474hg18UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg38111
hg19111
hg18111
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1006501
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3575595
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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