A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3548565



Internal ID18749641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:1459661..1485620hg38UCSC Ensembl
Outerchr1:1459004..1489289hg38UCSC Ensembl
Innerchr1:1395041..1421000hg19UCSC Ensembl
Outerchr1:1394384..1424669hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3830286
hg1930286
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9747312
Samples
Known GenesATAD3B, ATAD3C
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3548565
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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