A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3562571



Internal ID18763647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:58552333..58552563hg38UCSC Ensembl
Outerchr1:58552311..58552582hg38UCSC Ensembl
Innerchr1:59018005..59018235hg19UCSC Ensembl
Outerchr1:59017983..59018254hg19UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg38272
hg19272
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4e215
Supporting Variantsessv9761318
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3562571
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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