A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1163e201



Internal ID22760521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:158333861..158342531hg38UCSC Ensembl
chr7:158126553..158135223hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg388671
hg198671
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2735934, esv2735942, esv2735936, esv2735940, esv2735932
SamplesSSM083, SSM071, SSM024, SSM045, SSM046, SSM064, SSM079, SSM065, SSM087, SSM039, SSM073, SSM074, SSM023, SSM028, SSM092, SSM090, SSM021, SSM047, SSM018, SSM069, SSM029, SSM096, SSM026, SSM089, SSM017, SSM019, SSM031, SSM067, SSM044, SSM086, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM016, SSM005, SSM080, SSM037, SSM077, SSM076, SSM022, SSM070, SSM095, SSM025, SSM004, SSM099, SSM043, SSM052, SSM098
Known GenesPTPRN2
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)dgv1163e201
Frequency
Sample Size96
Observed Gain0
Observed Loss51
Observed Complex0
Frequencyn/a


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