A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv176e55



Internal ID18985407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:25245058..25529111hg38UCSC Ensembl
chr22:25641025..25925078hg19UCSC Ensembl
chr22:23971025..24255078hg18UCSC Ensembl
chr22:23965579..24249632hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38284054
hg19284054
hg18284054
hg17284054
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv34758, esv34201, esv34716, esv34702, esv35060, esv34647, esv34960, esv2751958, esv2751945, esv2751957, esv2751961
SamplesBEC_704, NA12707, SPC_153, NA12716, NA19141, BEC_543, BEC_720, BEC_657, NA11830, NA07000, NA10861
Known GenesCRYBB2P1, IGLL3P, 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)dgv176e55
Frequency
Sample Size771
Observed Gain0
Observed Loss37
Observed Complex0
Frequencyn/a


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