A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3554480



Internal ID18755556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46099085..46099311hg38UCSC Ensembl
Outerchr17:46099022..46099364hg38UCSC Ensembl
Innerchr17:44176451..44176677hg19UCSC Ensembl
Outerchr17:44176388..44176730hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38343
hg19343
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9753227
Samples
Known GenesKANSL1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3554480
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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