A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6922389



Internal ID10035118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:123478546..123479230hg38UCSC Ensembl
Outerchr3:123197393..123198077hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg38685
hg19685
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2725838
Supporting Variants
SamplesSSM018
Known Genes
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)essv6922389
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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