A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv587e201



Internal ID22759945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:10312080..10312630hg38UCSC Ensembl
chr2:10452206..10452756hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38551
hg19551
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2719649, esv2719647, esv2719645
SamplesSSM100, SSM036, SSM071, SSM027, SSM075, SSM045, SSM046, SSM079, SSM065, SSM087, SSM097, SSM039, SSM013, SSM073, SSM093, SSM042, SSM088, SSM041, SSM023, SSM084, SSM047, SSM069, SSM096, SSM026, SSM089, SSM019, SSM035, SSM032, SSM003, SSM031, SSM067, SSM044, SSM014, SSM033, SSM085, SSM068, SSM081, SSM040, SSM020, SSM007, SSM015, SSM053, SSM005, SSM080, SSM037, SSM077, SSM076, SSM091, SSM070, SSM025, SSM004, SSM098
Known GenesHPCAL1
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)dgv587e201
Frequency
Sample Size96
Observed Gain0
Observed Loss52
Observed Complex0
Frequencyn/a


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