A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2743879



Internal ID9978163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:881349..881701hg38UCSC Ensembl
Outerchr11:881349..881701hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38353
hg19353
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6958954, essv6937340, essv6815290, essv6970586, essv6919964, essv6768345, essv6940118, essv6948869, essv6737742, essv6771872
SamplesSSM024, SSM064, SSM065, SSM050, SSM028, SSM026, SSM017, SSM003, SSM077, SSM022
Known GenesCHID1
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)esv2743879
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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