A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717169



Internal ID10300805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:59590948..59591279hg38UCSC Ensembl
Outerchr18:57258180..57258511hg19UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg38332
hg19332
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6868138, essv6688928, essv6839435, essv6703317, essv6792716, essv6832091, essv6666071, essv6871322, essv6901223, essv6891928, essv6937057, essv6824436, essv6796886, essv6678646, essv6812802, essv6928622, essv6772901, essv6909624, essv6816148, essv6945892, essv6895373, essv6721490, essv6880071, essv6932757, essv6858441, essv6863337, essv6967123, essv6888642, essv6960653, essv6835656, essv6784430, essv6885618, essv6713734, essv6806982, essv6801105, essv6674462, essv6788617, essv6905670, essv6699291, essv6820619, essv6809989, essv6872820, essv6732972
SamplesSSM100, SSM083, SSM071, SSM027, SSM075, SSM011, SSM079, SSM065, SSM087, SSM038, SSM097, SSM039, SSM013, SSM093, SSM074, SSM042, SSM088, SSM023, SSM090, SSM021, SSM047, SSM069, SSM029, SSM096, SSM026, SSM089, SSM019, SSM035, SSM032, SSM031, SSM044, SSM014, SSM068, SSM081, SSM072, SSM082, SSM020, SSM078, SSM077, SSM076, SSM070, SSM095, SSM098
Known GenesCCBE1
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)esv2717169
Frequency
Sample Size96
Observed Gain0
Observed Loss43
Observed Complex0
Frequencyn/a


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