A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6707783



Internal ID10120114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:99886118..99886285hg38UCSC Ensembl
Outerchr3:99604962..99605129hg19UCSC Ensembl
Cytoband3q12.1
Allele length
AssemblyAllele length
hg38168
hg19168
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2725686
Supporting Variants
SamplesSSM041
Known GenesCMSS1, FILIP1L, MIR548G
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)essv6707783
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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