A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3544594



Internal ID18745670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:15816503..15821662hg38UCSC Ensembl
Outerchr9:15815144..15822002hg38UCSC Ensembl
Innerchr9:15816501..15821660hg19UCSC Ensembl
Outerchr9:15815142..15822000hg19UCSC Ensembl
Cytoband9p22.3
Allele length
AssemblyAllele length
hg386859
hg196859
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv478e215
Supporting Variantsessv9743341
Samples
Known GenesCCDC171
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3544594
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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