A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738925



Internal ID10322561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:110409878..110410266hg38UCSC Ensembl
Outerchr9:113172158..113172546hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg38389
hg19389
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1263e201
Supporting Variantsessv6695080, essv6672452
SamplesSSM031, SSM037
Known GenesSVEP1
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)esv2738925
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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