A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6947120



Internal ID10056899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:126640105..126640401hg38UCSC Ensembl
Outerchr3:126358948..126359244hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38297
hg19297
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2725874
Supporting Variants
SamplesSSM024
Known GenesTXNRD3
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)essv6947120
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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