A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6774052



Internal ID9833444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:184367865..184368256hg38UCSC Ensembl
Outerchr3:184085653..184086044hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg38392
hg19392
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726298
Supporting Variants
SamplesSSM066
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)essv6774052
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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