A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6817466



Internal ID9874958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:9950665..9950899hg38UCSC Ensembl
Outerchr4:9952289..9952523hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38235
hg19235
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727160, esv2727159
Supporting Variants
SamplesSSM078
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)essv6817466
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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