A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893466



Internal ID19184286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25290073..25439547hg38UCSC Ensembl
Outerchr22:25233715..25467489hg38UCSC Ensembl
Innerchr22:25686040..25835514hg19UCSC Ensembl
Outerchr22:25629682..25863456hg19UCSC Ensembl
Innerchr22:24016040..24165514hg18UCSC Ensembl
Outerchr22:23959682..24193456hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38233775
hg19233775
hg18233775
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25792666, essv25791883, essv25790689, essv25791385, essv25789395, essv25789652, essv25790494, essv25787822, essv25789060, essv25788794, essv25792923, essv25792525, essv25788699, essv25789495, essv25791841, essv25789846, essv25789008, essv25791433
Samples
Known GenesCRYBB2P1, IGLL3P, LRP5L, MIR6817
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Illumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893466
Frequency
Sample Size3017
Observed Gain18
Observed Loss0
Observed Complex0
Frequencyn/a


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