A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744537



Internal ID10325507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:55811870..55827807hg38UCSC Ensembl
Outerchr11:55579346..55595283hg19UCSC Ensembl
Cytoband11q11
Allele length
AssemblyAllele length
hg3815938
hg1915938
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6755441, essv6891160, essv6710310, essv6935995
SamplesSSM097, SSM058, SSM021, SSM006
Known GenesOR5D18, OR5L1, OR5L2
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)esv2744537
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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