A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25783505



Internal ID18830097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:20735860..21111491hg38UCSC Ensembl
Innerchr22:21090148..21465780hg19UCSC Ensembl
Innerchr22:19420148..19795780hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38375632
hg19375633
hg18375633
Variant TypeCNV loss
Copy Number1
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=111
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25783505
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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