A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744006



Internal ID10324976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:2385355..2385945hg38UCSC Ensembl
Outerchr11:2406585..2407175hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38591
hg19591
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6904738, essv6953034, essv6804254, essv6695358, essv6884954, essv6856912, essv6944705, essv6677628, essv6724316, essv6940130, essv6706046, essv6709337, essv6894489, essv6702247, essv6800017, essv6965481, essv6831126, essv6882178, essv6931638, essv6768359, essv6919975, essv6720514, essv6912409, essv6948879, essv6806227, essv6815303, essv6691437, essv6937429, essv6783378, essv6935927, essv6823445, essv6970599, essv6775550, essv6791669, essv6779271, essv6850881, essv6870580, essv6897507, essv6770187, essv6716611, essv6924147, essv6672855, essv6827509, essv6736954, essv6681416
SamplesSSM036, SSM008, SSM027, SSM024, SSM045, SSM064, SSM079, SSM087, SSM039, SSM013, SSM009, SSM074, SSM041, SSM023, SSM028, SSM090, SSM021, SSM018, SSM017, SSM094, SSM032, SSM003, SSM031, SSM067, SSM044, SSM086, SSM033, SSM066, SSM068, SSM081, SSM040, SSM072, SSM020, SSM007, SSM015, SSM080, SSM037, SSM077, SSM022, SSM070, SSM095, SSM025, SSM099, SSM043, SSM098
Known GenesCD81
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)esv2744006
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