A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732621



Internal ID9966940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:117923961..117924803hg38UCSC Ensembl
Outerchr6:118245124..118245966hg19UCSC Ensembl
Cytoband6q22.1
Allele length
AssemblyAllele length
hg38843
hg19843
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6818336, essv6907664, essv6671222, essv6860963, essv6684064
SamplesSSM078, SSM088, SSM031, SSM034, SSM014
Known GenesSLC35F1
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)esv2732621
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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