A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748286



Internal ID10329256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:53556138..53556778hg38UCSC Ensembl
Outerchr1:54021811..54022451hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38641
hg19641
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6679205, essv6832627
SamplesSSM033, SSM082
Known GenesGLIS1
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)esv2748286
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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