A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6973753



Internal ID9731093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:9950674..9950906hg38UCSC Ensembl
Outerchr4:9952298..9952530hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38233
hg19233
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727160, esv2727159
Supporting Variants
SamplesSSM029
Known GenesSLC2A9
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)essv6973753
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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