A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1162e201



Internal ID22760520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:158330165..158342529hg38UCSC Ensembl
chr7:158122857..158135221hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg3812365
hg1912365
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2735929, esv2735925, esv2735923
SamplesSSM036, SSM083, SSM071, SSM024, SSM045, SSM046, SSM064, SSM079, SSM065, SSM087, SSM039, SSM013, SSM073, SSM093, SSM074, SSM041, SSM023, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM029, SSM096, SSM026, SSM089, SSM017, SSM019, SSM094, SSM032, SSM003, SSM031, SSM067, SSM044, SSM014, SSM086, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM015, SSM016, SSM005, SSM080, SSM037, SSM077, SSM076, SSM022, SSM070, SSM095, SSM025, SSM034, SSM004, SSM099, SSM043, SSM052, SSM098, SSM049, SSM012
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)dgv1162e201
Frequency
Sample Size96
Observed Gain0
Observed Loss64
Observed Complex0
Frequencyn/a


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