A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6787650



Internal ID9846409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:64855706..64856163hg38UCSC Ensembl
Outerchr11:64623178..64623635hg19UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg38458
hg19458
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2744628
Supporting Variants
SamplesSSM069
Known GenesEHD1
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)essv6787650
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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