A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731880



Internal ID9966198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:33086265..33140173hg38UCSC Ensembl
Outerchr6:33054042..33107950hg19UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3853909
hg1953909
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1000e201
Supporting Variantsessv6762644, essv6683991, essv6957001, essv6849125, essv6887015, essv6760943, essv6963731, essv6899715, essv6805444, essv6697910, essv6687249, essv6715524, essv6865591, essv6963730, essv6701082, essv6808429, essv6849126, essv6794653, essv6860872, essv6814329, essv6951908, essv6774589, essv6757396, essv6705038, essv6818215, essv6751591, essv6798868, essv6953595, essv6890227, essv6833796, essv6719436, essv6786403, essv6671098, essv6974770, essv6754540, essv6830180, essv6811315, essv6757395, essv6928629, essv6708448, essv6760932, essv6926816, essv6855221, essv6849124, essv6694160, essv6826408, essv6953706, essv6943436, essv6671100, essv6795554, essv6953817, essv6711844, essv6676571
SamplesSSM100, SSM059, SSM008, SSM071, SSM027, SSM075, SSM087, SSM038, SSM097, SSM039, SSM009, SSM074, SSM042, SSM088, SSM041, SSM057, SSM023, SSM058, SSM069, SSM029, SSM096, SSM062, SSM026, SSM089, SSM019, SSM035, SSM032, SSM003, SSM031, SSM044, SSM001, SSM086, SSM066, SSM081, SSM040, SSM072, SSM082, SSM078, SSM080, SSM037, SSM077, SSM076, SSM025, SSM034, SSM043
Known GenesHLA-DPB1, HLA-DPB2
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)esv2731880
Frequency
Sample Size96
Observed Gain0
Observed Loss45
Observed Complex0
Frequencyn/a


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