A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988830



Internal ID12636576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25323946..25529111hg38UCSC Ensembl
Innerchr22:25719913..25925078hg19UCSC Ensembl
Innerchr22:24049913..24255078hg18UCSC Ensembl
Innerchr22:24044467..24249632hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38205166
hg19205166
hg18205166
hg17205166
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751942
Supporting Variants
SamplesSPC_162
Known GenesCRYBB2P1, LRP5L, MIR6817
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988830
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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