A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731779



Internal ID9966097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:29978792..29980656hg38UCSC Ensembl
Outerchr6:29946569..29948433hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg381865
hg191865
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6697893, essv6943337, essv6896749, essv6884170, essv6811263, essv6849058, essv6911292, essv6893485, essv6881708, essv6841207, essv6938935, essv6837395, essv6730839, essv6728298, essv6802537, essv6890176, essv6927762, essv6736930, essv6974702, essv6790463, essv6918714, essv6708377, essv6683957, essv6903686, essv6770746, essv6949928, essv6899638, essv6963649, essv6711788, essv6808348, essv6794643, essv6869655, essv6878577, essv6715464, essv6844868, essv6762592, essv6860763
SamplesSSM100, SSM083, SSM027, SSM075, SSM065, SSM038, SSM097, SSM013, SSM009, SSM073, SSM093, SSM050, SSM042, SSM088, SSM002, SSM041, SSM023, SSM084, SSM090, SSM047, SSM029, SSM062, SSM017, SSM003, SSM001, SSM086, SSM085, SSM007, SSM015, SSM076, SSM022, SSM070, SSM095, SSM034, SSM099, SSM043, SSM098
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)esv2731779
Frequency
Sample Size96
Observed Gain0
Observed Loss37
Observed Complex0
Frequencyn/a


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