A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744505



Internal ID9978789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:49822913..49860766hg38UCSC Ensembl
Outerchr11:49844465..49882318hg19UCSC Ensembl
Cytoband11p11.12
Allele length
AssemblyAllele length
hg3837854
hg1937854
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6732002, essv6920021, essv6709389, essv6944783, essv6809269, essv6894542, essv6815349, essv6803393, essv6948946, essv6812125, essv6838503, essv6920020, essv6779323
SamplesSSM083, SSM024, SSM075, SSM073, SSM041, SSM023, SSM047, SSM017, SSM067, SSM077, SSM076, 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)esv2744505
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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