A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9750670



Internal ID18724916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:5069061..5069363hg38UCSC Ensembl
Outerchr2:5068995..5069411hg38UCSC Ensembl
Innerchr2:5209194..5209496hg19UCSC Ensembl
Outerchr2:5209128..5209544hg19UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg38417
hg19417
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3551923
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9750670
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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