A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6700279



Internal ID10116401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:99886107..99886439hg38UCSC Ensembl
Outerchr3:99604951..99605283hg19UCSC Ensembl
Cytoband3q12.1
Allele length
AssemblyAllele length
hg38333
hg19333
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2725686
Supporting Variants
SamplesSSM039
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)essv6700279
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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