A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3549888



Internal ID18404278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:245270225..245270329hg38UCSC Ensembl
chr1:245433527..245433631hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38105
hg19105
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9748635
Samples
Known GenesKIF26B
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3549888
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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