A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9746012



Internal ID18720258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:6551855..6552281hg38UCSC Ensembl
Outerchr11:6551738..6552350hg38UCSC Ensembl
Innerchr11:6573085..6573511hg19UCSC Ensembl
Outerchr11:6572968..6573580hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38613
hg19613
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3547265
Supporting Variants
Samples
Known GenesDNHD1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9746012
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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