A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25784596



Internal ID19174108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:13793448..13842387hg38UCSC Ensembl
Innerchr21:15165769..15214708hg19UCSC Ensembl
Innerchr21:14087640..14136579hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg3848940
hg1948940
hg1848940
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893366
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=12
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25784596
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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