A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6881564



Internal ID9667281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:40539751..40542685hg38UCSC Ensembl
Outerchr3:40581242..40584176hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg382935
hg192935
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2725188
Supporting Variants
SamplesSSM012
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)essv6881564
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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