A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725294



Internal ID10308930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:55324395..55324489hg38UCSC Ensembl
Outerchr3:55358423..55358517hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg3895
hg1995
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6864660, essv6955722, essv6859872, essv6854092, essv6906694, essv6962455, essv6669871, essv6847919
SamplesSSM027, SSM087, SSM088, SSM026, SSM089, SSM031, SSM014, SSM086
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)esv2725294
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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