A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788387



Internal ID18832169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:14104569..14339246hg38UCSC Ensembl
Innerchr21:15476890..15711567hg19UCSC Ensembl
Innerchr21:14398761..14633438hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38234678
hg19234678
hg18234678
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893371
Supporting Variants
Samples
Known GenesABCC13, LIPI, RBM11
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=125
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788387
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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