A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9758602



Internal ID18732848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:101358751..101359069hg38UCSC Ensembl
Outerchr2:101358700..101359111hg38UCSC Ensembl
Innerchr2:101975213..101975531hg19UCSC Ensembl
Outerchr2:101975162..101975573hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38412
hg19412
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3559855
Supporting Variants
Samples
Known GenesCREG2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9758602
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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