A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv739e201



Internal ID20125626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:44884243..44884704hg38UCSC Ensembl
chr22:45280123..45280584hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38462
hg19462
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2724377, esv2743201
SamplesSSM100, SSM071, SSM027, SSM011, SSM079, SSM087, SSM074, SSM084, SSM090, SSM047, SSM035, SSM094, SSM067, SSM086, SSM033, SSM068, SSM081, SSM070, SSM095, SSM025, SSM098, SSM012
Known GenesPHF21B
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)dgv739e201
Frequency
Sample Size96
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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