A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3539938



Internal ID18394328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:70010546..70016309hg38UCSC Ensembl
Outerchr6:70010169..70016589hg38UCSC Ensembl
Innerchr6:70720438..70726201hg19UCSC Ensembl
Outerchr6:70720061..70726481hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg386421
hg196421
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9738685
Samples
Known GenesCOL19A1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3539938
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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