A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726298



Internal ID9960604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:184367862..184368470hg38UCSC Ensembl
Outerchr3:184085650..184086258hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg38609
hg19609
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6821443, essv6745418, essv6774052, essv6854256
SamplesSSM087, SSM066, SSM010, SSM055
Known GenesPOLR2H
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)esv2726298
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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