A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv945e201



Internal ID22760303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:80693183..80693452hg38UCSC Ensembl
chr5:79989002..79989271hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38270
hg19270
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2730376, esv2730378
SamplesSSM036, SSM071, SSM024, SSM045, SSM046, SSM011, SSM064, SSM079, SSM013, SSM009, SSM073, SSM042, SSM088, SSM002, SSM041, SSM023, SSM028, SSM021, SSM047, SSM069, SSM029, SSM026, SSM017, SSM019, SSM035, SSM094, SSM032, SSM031, SSM044, SSM014, SSM086, SSM033, SSM068, SSM040, SSM072, SSM020, SSM015, SSM078, SSM005, SSM077, SSM076, SSM022, SSM095, SSM025, SSM034, SSM052, SSM098, SSM056, SSM030, SSM012
Known GenesMSH3
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)dgv945e201
Frequency
Sample Size96
Observed Gain0
Observed Loss50
Observed Complex0
Frequencyn/a


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