A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6700280



Internal ID10116386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:99909931..99910780hg38UCSC Ensembl
Outerchr3:99628775..99629624hg19UCSC Ensembl
Cytoband3q12.1
Allele length
AssemblyAllele length
hg38850
hg19850
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2725688
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)essv6700280
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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