A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6848214



Internal ID9900188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:9950679..9950907hg38UCSC Ensembl
Outerchr4:9952303..9952531hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38229
hg19229
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727160, esv2727159
Supporting Variants
SamplesSSM086
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)essv6848214
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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