A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3568674



Internal ID7040056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:34157878..34157958hg38UCSC Ensembl
chr17:32484897..32484977hg19UCSC Ensembl
chr17:29509010..29509090hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3881
hg1981
hg1881
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1004718
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3568674
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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