A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727161



Internal ID9961469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:9955179..9955501hg38UCSC Ensembl
Outerchr4:9956803..9957125hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38323
hg19323
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6829677, essv6850320, essv6892974, essv6718845, essv6686758, essv6751167, essv6864880, essv6910794, essv6711314, essv6956038
SamplesSSM042, SSM089, SSM035, SSM057, SSM011, SSM044, SSM015, SSM026, SSM098, SSM081
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)esv2727161
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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