A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv763e201



Internal ID20125650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:11909121..12871926hg38UCSC Ensembl
chr3:11950595..12913425hg19UCSC Ensembl
Cytoband3p25.2
Allele length
AssemblyAllele length
hg38962806
hg19962831
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2724927, esv2724925
SamplesSSM008, SSM083, SSM071, SSM027, SSM046, SSM011, SSM064, SSM065, SSM013, SSM009, SSM073, SSM093, SSM050, SSM074, SSM042, SSM088, SSM023, SSM058, SSM028, SSM084, SSM090, SSM047, SSM018, SSM069, SSM061, SSM029, SSM096, SSM026, SSM089, SSM035, SSM094, SSM032, SSM044, SSM014, SSM086, SSM081, SSM020, SSM015, SSM078, SSM016, SSM005, SSM080, SSM037, SSM077, SSM022, SSM091, SSM055, SSM070, SSM025, SSM034, SSM099, SSM052, SSM098, SSM049
Known GenesC3orf83, CAND2, MKRN2, PPARG, RAF1, RPL32, SNORA7A, SYN2, TIMP4, TMEM40, TSEN2
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)dgv763e201
Frequency
Sample Size96
Observed Gain0
Observed Loss54
Observed Complex0
Frequencyn/a


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