A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8005n54



Internal ID22775900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:22326954..22913698hg38UCSC Ensembl
chr22:22681312..23255869hg19UCSC Ensembl
chr22:21011312..21585869hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38586745
hg19574558
hg18574558
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv588406, nsv588456, nsv588430, nsv588401, nsv588415, nsv588400, nsv588465, nsv588459, nsv588457, nsv588436, nsv588416, nsv588443, nsv588408, nsv588402, nsv588438, nsv588467, nsv588403, nsv588427, nsv588458, nsv588421, nsv588399, nsv588404, nsv588450, nsv588414, nsv588464, nsv588398, nsv588442, nsv588426, nsv588435, nsv588437
SamplesHGDP01413, HGDP00262, HGDP00267, 1780862547_A, HGDP00772, HGDP00604, NINDS_91, HGDP01238, HGDP00693, HGDP00592, HGDP00541, HGDP00614, HGDP00476, 1780862460_A, HGDP01084, 1798860443_A, HGDP01067, HGDP01260, 1780854339_A, NINDS_90, HGDP01021, 1780854449_A, HGDP00460, HGDP00407, HGDP00546, HGDP00938, 1798860280_A, HGDP00542, HGDP00234, HGDP00490, HGDP00472, HGDP00600, HGDP01226, HGDP00777, HGDP00606, HGDP00736, HGDP00474, HGDP00517, HGDP00988, HGDP01023, HGDP00527, HGDP01086, HGDP00914
Known GenesGGTLC2, IGLL5, LOC648691, MIR650, POM121L1P, PRAME, ZNF280A, ZNF280B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8005n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss43
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer