A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6775601



Internal ID9834836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:64855701..64856180hg38UCSC Ensembl
Outerchr11:64623173..64623652hg19UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg38480
hg19480
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2744628
Supporting Variants
SamplesSSM066
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)essv6775601
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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