A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744797



Internal ID10325767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:76718500..76719176hg38UCSC Ensembl
Outerchr11:76429544..76430220hg19UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg38677
hg19677
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6842338, essv6732029, essv6779363, essv6851016, essv6720592, essv6806296, essv6775614, essv6787661, essv6755460, essv6758159, essv6760897, essv6688203, essv6965630, essv6834795, essv6709411, essv6976978, essv6735113, essv6771966, essv6728238, essv6702349, essv6710465
SamplesSSM059, SSM027, SSM046, SSM065, SSM039, SSM074, SSM041, SSM058, SSM084, SSM047, SSM069, SSM061, SSM029, SSM035, SSM067, SSM044, SSM086, SSM066, SSM006, SSM082, SSM049
Known GenesGUCY2EP
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)esv2744797
Frequency
Sample Size96
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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