A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739160



Internal ID9973501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:133254981..133255683hg38UCSC Ensembl
Outerchr9:136130368..136131070hg19UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg38703
hg19703
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1267e201
Supporting Variantsessv6677422, essv6731704, essv6768199, essv6702017
SamplesSSM064, SSM039, SSM047, SSM032
Known GenesABO
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)esv2739160
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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