A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6745016



Internal ID10155853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:118169788..118170449hg38UCSC Ensembl
Outerchr1:118712411..118713072hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg38662
hg19662
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716707
Supporting Variants
SamplesSSM055
Known GenesSPAG17
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)essv6745016
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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