A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6836822



Internal ID10236808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:195713933..195714337hg38UCSC Ensembl
Outerchr3:195440804..195441208hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38405
hg19405
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726477
Supporting Variants
SamplesSSM083
Known Genes
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)essv6836822
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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