A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6747817



Internal ID9810773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:63239696..63242472hg38UCSC Ensembl
Outerchr1:63705367..63708143hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg382777
hg192777
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2749030
Supporting Variants
SamplesSSM056
Known GenesLINC00466
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)essv6747817
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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