A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3544593



Internal ID18745669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:15815128..15821941hg38UCSC Ensembl
Outerchr9:15813503..15822502hg38UCSC Ensembl
Innerchr9:15815126..15821939hg19UCSC Ensembl
Outerchr9:15813501..15822500hg19UCSC Ensembl
Cytoband9p22.3
Allele length
AssemblyAllele length
hg389000
hg199000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv478e215
Supporting Variantsessv9743340
Samples
Known GenesCCDC171
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3544593
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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