A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3563048



Internal ID18417438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:62686163..62686482hg38UCSC Ensembl
Outerchr1:62686097..62686540hg38UCSC Ensembl
Innerchr1:63151834..63152153hg19UCSC Ensembl
Outerchr1:63151768..63152211hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38444
hg19444
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9761795
Samples
Known GenesDOCK7
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3563048
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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