A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3545866



Internal ID18746942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:210121988..210122244hg38UCSC Ensembl
Outerchr1:210121949..210122329hg38UCSC Ensembl
Innerchr1:210295333..210295589hg19UCSC Ensembl
Outerchr1:210295294..210295674hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg38381
hg19381
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9744613
Samples
Known GenesSYT14
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3545866
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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