A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6689812



Internal ID10105099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:126534902..126535146hg38UCSC Ensembl
Outerchr3:126253745..126253989hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38245
hg19245
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2725870
Supporting Variants
SamplesSSM036
Known GenesCHST13
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)essv6689812
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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