A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2743588



Internal ID9977872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:131939164..131939332hg38UCSC Ensembl
Outerchr10:133752668..133752836hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38169
hg19169
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv114e201
Supporting Variantsessv6862119, essv6850831, essv6870565
SamplesSSM088, SSM090, SSM086
Known GenesPPP2R2D
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)esv2743588
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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