A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6884976



Internal ID10279784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:44378912..44379388hg38UCSC Ensembl
Outerchr11:44400462..44400938hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg38477
hg19477
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2744414
Supporting Variants
SamplesSSM095
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)essv6884976
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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