A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983107



Internal ID12974825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25272817..25523810hg38UCSC Ensembl
Innerchr22:25668784..25919777hg19UCSC Ensembl
Innerchr22:23998784..24249777hg18UCSC Ensembl
Innerchr22:23993338..24244331hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38250994
hg19250994
hg18250994
hg17250994
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34716
Supporting Variants
SamplesBEC_543
Known GenesCRYBB2P1, IGLL3P, LRP5L, MIR6817
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983107
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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