A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv14e201



Internal ID22759372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:25807980..25808713hg38UCSC Ensembl
chr1:26134471..26135204hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg38734
hg19734
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2741631, esv2745641, esv2743347
SamplesSSM008, SSM024, SSM079, SSM065, SSM087, SSM039, SSM013, SSM073, SSM042, SSM023, SSM028, SSM084, SSM021, SSM047, SSM018, SSM069, SSM029, SSM026, SSM017, SSM032, SSM003, SSM031, SSM067, SSM014, SSM066, SSM085, SSM068, SSM081, SSM040, SSM072, SSM020, SSM015, SSM080, SSM037, SSM022, SSM070, SSM025, SSM034, SSM043
Known GenesSEPN1
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)dgv14e201
Frequency
Sample Size96
Observed Gain0
Observed Loss39
Observed Complex0
Frequencyn/a


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