A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725154



Internal ID10308790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:36398372..36398664hg38UCSC Ensembl
Outerchr3:36439864..36440156hg19UCSC Ensembl
Cytoband3p22.3
Allele length
AssemblyAllele length
hg38293
hg19293
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6733838, essv6753553, essv6742551
SamplesSSM008, SSM053, SSM049
Known GenesSTAC
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)esv2725154
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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