A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv805e201



Internal ID20125692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:2396103..2396710hg38UCSC Ensembl
chr4:2397830..2398437hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38608
hg19608
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2726841, esv2726843
SamplesSSM100, SSM036, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM065, SSM087, SSM038, SSM097, SSM039, SSM013, SSM073, SSM093, SSM042, SSM088, SSM002, SSM041, SSM057, SSM023, SSM028, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM026, SSM089, SSM019, SSM035, SSM094, SSM032, SSM031, SSM067, SSM044, SSM001, SSM014, SSM086, SSM033, SSM085, SSM068, SSM081, SSM040, SSM082, SSM020, SSM015, SSM078, SSM016, SSM053, SSM005, SSM080, SSM037, SSM077, SSM076, SSM022, SSM010, SSM070, SSM034, SSM004, SSM099, SSM043, SSM098, SSM056, SSM030, SSM063
Known GenesZFYVE28
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)dgv805e201
Frequency
Sample Size96
Observed Gain0
Observed Loss71
Observed Complex0
Frequencyn/a


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