A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3547679



Internal ID18402069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:44279951..44284784hg38UCSC Ensembl
Outerchr11:44279785..44284950hg38UCSC Ensembl
Innerchr11:44301501..44306334hg19UCSC Ensembl
Outerchr11:44301335..44306500hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg385166
hg195166
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9746426
Samples
Known GenesALX4
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3547679
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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