A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv42e201



Internal ID22759400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196743570..196889169hg38UCSC Ensembl
chr1:196712700..196858299hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38145600
hg19145600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2721006, esv2721029
SamplesSSM100, SSM036, SSM008, SSM083, SSM027, SSM024, SSM075, SSM045, SSM079, SSM065, SSM087, SSM038, SSM097, SSM073, SSM093, SSM050, SSM002, SSM041, SSM057, SSM023, SSM058, SSM028, SSM092, SSM090, SSM021, SSM047, SSM018, SSM069, SSM061, SSM096, SSM062, SSM026, SSM089, SSM017, SSM035, SSM094, SSM032, SSM003, SSM031, SSM067, SSM001, SSM086, SSM033, SSM066, SSM006, SSM085, SSM068, SSM040, SSM072, SSM020, SSM078, SSM053, SSM080, SSM037, SSM077, SSM022, SSM010, SSM055, SSM025, SSM099, SSM043, SSM052, SSM098, SSM049, SSM056, SSM030, SSM063, SSM012
Known GenesCFH, CFHR1, CFHR3, CFHR4
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)dgv42e201
Frequency
Sample Size96
Observed Gain0
Observed Loss68
Observed Complex0
Frequencyn/a


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