A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714116



Internal ID9948400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:24852605..24853285hg38UCSC Ensembl
Outerchr16:24863926..24864606hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg38681
hg19681
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6928333, essv6913077, essv6741507, essv6810044, essv6776162, essv6702955, essv6846340, essv6932377, essv6901779, essv6960123, essv6779943, essv6682016, essv6696085, essv6755947, essv6668464, essv6966586, essv6673967, essv6776600, essv6916565, essv6857991
SamplesSSM008, SSM027, SSM087, SSM039, SSM009, SSM058, SSM026, SSM019, SSM031, SSM067, SSM033, SSM066, SSM085, SSM020, SSM015, SSM016, SSM037, SSM052, SSM030, SSM012
Known GenesSLC5A11
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)esv2714116
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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