A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6872112



Internal ID9921697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:11909470..11914611hg38UCSC Ensembl
Outerchr3:11950944..11956085hg19UCSC Ensembl
Cytoband3p25.2
Allele length
AssemblyAllele length
hg385142
hg195142
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724926, esv2724925
Supporting Variants
SamplesSSM091
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)essv6872112
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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