A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3554528



Internal ID18755604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:50350213..50350519hg38UCSC Ensembl
Outerchr17:50350142..50350560hg38UCSC Ensembl
Innerchr17:48427574..48427880hg19UCSC Ensembl
Outerchr17:48427503..48427921hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg38419
hg19419
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9753275
Samples
Known GenesXYLT2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3554528
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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