A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9758626



Internal ID18732872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:104591474..104592194hg38UCSC Ensembl
Outerchr2:104591458..104592211hg38UCSC Ensembl
Innerchr2:105207932..105208652hg19UCSC Ensembl
Outerchr2:105207916..105208669hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg38754
hg19754
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3559879
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9758626
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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