A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744277



Internal ID10325247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:26300893..26301160hg38UCSC Ensembl
Outerchr11:26322440..26322707hg19UCSC Ensembl
Cytoband11p14.2
Allele length
AssemblyAllele length
hg38268
hg19268
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6882197, essv6965530, essv6672895, essv6695385, essv6866930, essv6894513, essv6850935, essv6787606, essv6702276, essv6976875, essv6795873, essv6838469, essv6827540, essv6908691, essv6728179, essv6724346
SamplesSSM083, SSM071, SSM027, SSM045, SSM046, SSM039, SSM069, SSM029, SSM089, SSM094, SSM031, SSM014, SSM086, SSM080, SSM037, 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)esv2744277
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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