A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726186



Internal ID9960492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:169472531..169472650hg38UCSC Ensembl
Outerchr3:169190319..169190438hg19UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg38120
hg19120
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6785705, essv6810800, essv6770174, essv6675847, essv6848089, essv6892890, essv6864772, essv6854237
SamplesSSM065, SSM087, SSM069, SSM089, SSM032, SSM086, SSM076, SSM098
Known GenesMECOM
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)esv2726186
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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