A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6825634



Internal ID10226552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:99909935..99910767hg38UCSC Ensembl
Outerchr3:99628779..99629611hg19UCSC Ensembl
Cytoband3q12.1
Allele length
AssemblyAllele length
hg38833
hg19833
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2725688
Supporting Variants
SamplesSSM080
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)essv6825634
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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