A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25781798



Internal ID19180538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:220744041..220773560hg38UCSC Ensembl
Innerchr2:221608761..221638280hg19UCSC Ensembl
Innerchr2:221317005..221346524hg18UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg3829520
hg1929520
hg1829520
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893559
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=9
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25781798
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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