A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv575e201



Internal ID22759933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:2720774..2721437hg38UCSC Ensembl
chr2:2724546..2725209hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38664
hg19664
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2719427, esv2719430
SamplesSSM100, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM011, SSM064, SSM079, SSM065, SSM087, SSM097, SSM039, SSM073, SSM042, SSM041, SSM023, SSM028, SSM092, SSM084, SSM021, SSM018, SSM069, SSM026, SSM017, SSM032, SSM003, SSM031, SSM067, SSM044, SSM086, SSM033, SSM066, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM015, SSM016, SSM005, SSM037, SSM077, SSM022, SSM010, SSM070, SSM095, SSM025, SSM004, SSM099, SSM043, SSM052, SSM098, SSM012
Known Genes
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)dgv575e201
Frequency
Sample Size96
Observed Gain0
Observed Loss57
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer