A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744999



Internal ID10325969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:102730812..102731522hg38UCSC Ensembl
Outerchr11:102601543..102602253hg19UCSC Ensembl
Cytoband11q22.2
Allele length
AssemblyAllele length
hg38711
hg19711
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv146e201
Supporting Variantsessv6977011, essv6775628, essv6673036, essv6959135, essv6927855, essv6728254
SamplesSSM046, SSM029, SSM026, SSM019, SSM031, SSM066
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)esv2744999
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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