A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6781635



Internal ID9839675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:3227471..3227749hg38UCSC Ensembl
Outerchr4:3229198..3229476hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726869, esv2726870
Supporting Variants
SamplesSSM068
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)essv6781635
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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