A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3540908



Internal ID18741984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:168316569..168317898hg38UCSC Ensembl
Outerchr6:168316285..168318111hg38UCSC Ensembl
Innerchr6:168717249..168718578hg19UCSC Ensembl
Outerchr6:168716965..168718791hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg381827
hg191827
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv414e215
Supporting Variantsessv9739655
Samples
Known GenesDACT2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3540908
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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