A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6950851



Internal ID9992120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:108190711..108194642hg38UCSC Ensembl
Outerchr1:108733333..108737264hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg383932
hg193932
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715906
Supporting Variants
SamplesSSM004
Known GenesSLC25A24
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)essv6950851
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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