A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6810830



Internal ID10213743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:195616974..195723085hg38UCSC Ensembl
Outerchr3:195343845..195449956hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38106112
hg19106112
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726477
Supporting Variants
SamplesSSM076
Known GenesMIR570, MUC20, SDHAP2
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)essv6810830
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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