A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv738e201



Internal ID22760096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:44619358..44619988hg38UCSC Ensembl
chr22:45015238..45015868hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38631
hg19631
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2724357, esv2724356
SamplesSSM027, SSM011, SSM097, SSM042, SSM041, SSM090, SSM021, SSM047, SSM069, SSM014, SSM086, SSM020, SSM016, SSM080, SSM037, SSM076, SSM099
Known GenesLINC00229
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)dgv738e201
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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