A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990210



Internal ID12634914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:45286682..45507983hg38UCSC Ensembl
Innerchr22:45682563..45903863hg19UCSC Ensembl
Innerchr22:44061227..44282527hg18UCSC Ensembl
Innerchr22:44003100..44224400hg17UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38221302
hg19221301
hg18221301
hg17221301
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34218
Supporting Variants
SamplesNA18980
Known GenesFAM118A, FBLN1, RIBC2, SMC1B, UPK3A
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6990210
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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