A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745184



Internal ID9979468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:124250355..124265734hg38UCSC Ensembl
Outerchr11:124121102..124135630hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg3815380
hg1914529
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6891227, essv6803456, essv6970739, essv6867069, essv6916064, essv6834831, essv6691539, essv6800149, essv6908240, essv6931769, essv6887964
SamplesSSM036, SSM097, SSM073, SSM002, SSM028, SSM096, SSM089, SSM072, SSM082, SSM020, SSM016
Known GenesOR8G1, OR8G5
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)esv2745184
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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