A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3554617



Internal ID18409007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:60334581..60336560hg38UCSC Ensembl
Outerchr17:60334472..60336750hg38UCSC Ensembl
Innerchr17:58411942..58413921hg19UCSC Ensembl
Outerchr17:58411833..58414111hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg382279
hg192279
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9753364
Samples
Known GenesUSP32
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3554617
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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