A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3570757



Internal ID6695453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:68431727..68431727hg38UCSC Ensembl
chr17:66427868..66427868hg19UCSC Ensembl
chr17:63939463..63939463hg18UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg38181
hg19181
hg18181
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv993931
Supporting Variants
SamplesHuRef
Known GenesPRKAR1A, WIPI1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3570757
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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