A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25792985



Internal ID18826039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:20733858..21135629hg38UCSC Ensembl
Innerchr22:21088146..21489918hg19UCSC Ensembl
Innerchr22:19418146..19819918hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38401772
hg19401773
hg18401773
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893441
Supporting Variants
Samples
Known GenesAIFM3, BCRP2, CRKL, LOC400891, LZTR1, P2RX6, P2RX6P, PI4KA, SERPIND1, SLC7A4, SNAP29, THAP7, THAP7-AS1, TUBA3FP
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=114
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25792985
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer