A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3572794



Internal ID7044176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:34407385..34407393hg38UCSC Ensembl
chr17:32734404..32734412hg19UCSC Ensembl
chr17:29758517..29758525hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38332
hg19332
hg18332
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv990241
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3572794
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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