A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715036



Internal ID9949321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:88771762..88772039hg38UCSC Ensembl
Outerchr16:88838170..88838447hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6940997, essv6812657, essv6703078, essv6788392, essv6665662, essv6806823, essv6725093, essv6882777, essv6966770, essv6901073, essv6960299, essv6714576, essv6828317, essv6696195, essv6867904
SamplesSSM022, SSM027, SSM006, SSM089, SSM039, SSM045, SSM094, SSM100, SSM029, SSM069, SSM037, SSM074, SSM026, SSM076, SSM080
Known GenesPIEZO1
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)esv2715036
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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