A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3553122



Internal ID18407512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:19434933..19435099hg38UCSC Ensembl
Outerchr1:19434930..19435137hg38UCSC Ensembl
Innerchr1:19761427..19761593hg19UCSC Ensembl
Outerchr1:19761424..19761631hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38208
hg19208
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9751869
Samples
Known GenesCAPZB
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3553122
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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