A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725686



Internal ID10309322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:99885749..99886636hg38UCSC Ensembl
Outerchr3:99604593..99605480hg19UCSC Ensembl
Cytoband3q12.1
Allele length
AssemblyAllele length
hg38888
hg19888
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6951187, essv6722577, essv6921862, essv6933945, essv6947108, essv6707783, essv6973493, essv6938278, essv6903075, essv6773995, essv6922366, essv6700279, essv6942498, essv6718702, essv6714825, essv6910645
SamplesSSM024, SSM045, SSM039, SSM013, SSM041, SSM023, SSM021, SSM018, SSM029, SSM003, SSM044, SSM066, SSM015, SSM022, SSM025, SSM043
Known GenesCMSS1, FILIP1L, MIR548G
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)esv2725686
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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