A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9758683



Internal ID18732929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:109573086..109573181hg38UCSC Ensembl
chr2:110330663..110330758hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3896
hg1996
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3559936
Supporting Variants
Samples
Known GenesSEPT10
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9758683
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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