A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv177e55



Internal ID22761127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:25323279..25523810hg38UCSC Ensembl
chr22:25719246..25919777hg19UCSC Ensembl
chr22:24049246..24249777hg18UCSC Ensembl
chr22:24043800..24244331hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38200532
hg19200532
hg18200532
hg17200532
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv34480, esv35068, esv34249, esv35149
SamplesNA11995, NA19142, NA10856, NA19143
Known GenesCRYBB2P1, LRP5L, MIR6817
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)dgv177e55
Frequency
Sample Size771
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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