A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3540003



Internal ID18741079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:75445785..75451657hg38UCSC Ensembl
Outerchr6:75445285..75452284hg38UCSC Ensembl
Innerchr6:76155501..76161373hg19UCSC Ensembl
Outerchr6:76155001..76162000hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg387000
hg197000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9738750
Samples
Known GenesFILIP1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3540003
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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