A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6854098



Internal ID10252172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:63270934..63271001hg38UCSC Ensembl
Outerchr3:63256610..63256677hg19UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2725341, esv2725342
Supporting Variants
SamplesSSM087
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)essv6854098
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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