A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6914424



Internal ID10025557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:21154592..21166455hg38UCSC Ensembl
Outerchr3:21196084..21207947hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg3811864
hg1911864
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2725021, esv2725022
Supporting Variants
SamplesSSM016
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)essv6914424
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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