A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6955517



Internal ID9989916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:182727175..182727616hg38UCSC Ensembl
Outerchr3:182444963..182445404hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg38442
hg19442
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726287
Supporting Variants
SamplesSSM004
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)essv6955517
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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