A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6907263



Internal ID9638852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:980087..980370hg38UCSC Ensembl
Outerchr11:980087..980370hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38284
hg19284
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2743881, esv2743878
Supporting Variants
SamplesSSM002
Known GenesAP2A2
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)essv6907263
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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