A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6681334



Internal ID10097498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:98407541..98408051hg38UCSC Ensembl
Outerchr10:100167298..100167808hg19UCSC Ensembl
Cytoband10q24.2
Allele length
AssemblyAllele length
hg38511
hg19511
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2739973
Supporting Variants
SamplesSSM033
Known GenesPYROXD2
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)essv6681334
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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