A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3554255



Internal ID18408645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:21203874..21208187hg38UCSC Ensembl
Outerchr17:21203688..21208687hg38UCSC Ensembl
Innerchr17:21107187..21111500hg19UCSC Ensembl
Outerchr17:21107001..21112000hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg385000
hg195000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9753002
Samples
Known GenesTMEM11
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3554255
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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