A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6789697



Internal ID9847907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:11905886..11908289hg38UCSC Ensembl
Outerchr3:11947360..11949763hg19UCSC Ensembl
Cytoband3p25.2
Allele length
AssemblyAllele length
hg382404
hg192404
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724892, esv2724924
Supporting Variants
SamplesSSM070
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)essv6789697
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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