A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3540907



Internal ID18741983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:168316322..168317925hg38UCSC Ensembl
Outerchr6:168316213..168318108hg38UCSC Ensembl
Innerchr6:168717002..168718605hg19UCSC Ensembl
Outerchr6:168716893..168718788hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg381896
hg191896
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv414e215
Supporting Variantsessv9739654
Samples
Known GenesDACT2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3540907
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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