A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6724394



Internal ID9788751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:64855721..64856165hg38UCSC Ensembl
Outerchr11:64623193..64623637hg19UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg38445
hg19445
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2744628
Supporting Variants
SamplesSSM045
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)essv6724394
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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