A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9759625



Internal ID18387185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:207250478..207250546hg38UCSC Ensembl
chr2:208115202..208115270hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3560878
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9759625
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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