A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6817391



Internal ID10221712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:186126003..186126221hg38UCSC Ensembl
Outerchr3:185843792..185844010hg19UCSC Ensembl
Cytoband3q27.2
Allele length
AssemblyAllele length
hg38219
hg19219
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726332, esv2726334, esv2726333
Supporting Variants
SamplesSSM078
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)essv6817391
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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