A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982671



Internal ID12975362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:23689828..23691299hg38UCSC Ensembl
Innerchr22:24032015..24033486hg19UCSC Ensembl
Innerchr22:22362015..22363486hg18UCSC Ensembl
Innerchr22:22356569..22358040hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg381472
hg191472
hg181472
hg171472
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751941
Supporting Variants
SamplesBEC_578
Known GenesGUSBP11, RGL4
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982671
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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