A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6880941



Internal ID10276329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:195687169..195687545hg38UCSC Ensembl
Outerchr3:195414040..195414416hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38377
hg19377
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726481, esv2726477
Supporting Variants
SamplesSSM094
Known GenesSDHAP2
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)essv6880941
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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