A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6794062



Internal ID9853686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:3227303..3227748hg38UCSC Ensembl
Outerchr4:3229030..3229475hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38446
hg19446
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726869, esv2726870
Supporting Variants
SamplesSSM071
Known GenesHTT
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)essv6794062
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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