A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3554876



Internal ID18755952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:81170201..81174288hg38UCSC Ensembl
Outerchr17:81169201..81174848hg38UCSC Ensembl
Innerchr17:79144001..79148088hg19UCSC Ensembl
Outerchr17:79143001..79148648hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg385648
hg195648
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9753623
Samples
Known GenesAATK-AS1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3554876
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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