A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718873



Internal ID10302509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:161512733..161631124hg38UCSC Ensembl
Outerchr1:161482523..161600914hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38118392
hg19118392
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6793422, essv6951285, essv6914095, essv6810434, essv6718263, essv6906221, essv6696587, essv6946606, essv6877787, essv6804506, essv6951250, essv6789270, essv6699726, essv6766645, essv6917558, essv6853423, essv6769646, essv6710696, essv6941921, essv6759156, essv6902647, essv6925802, essv6871806, essv6951274, essv6951263, essv6764255, essv6972570, essv6722106, essv6921857, essv6889119, essv6877751, essv6883334, essv6670132, essv6714360, essv6929190, essv6877798
SamplesSSM071, SSM024, SSM045, SSM064, SSM065, SSM087, SSM097, SSM039, SSM013, SSM093, SSM074, SSM042, SSM023, SSM018, SSM061, SSM029, SSM017, SSM019, SSM044, SSM014, SSM006, SSM020, SSM016, SSM005, SSM076, SSM091, SSM070, SSM095, SSM004, SSM043, SSM063, SSM012
Known GenesFCGR2A, FCGR2C, FCGR3A, FCGR3B, HSPA6, HSPA7
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)esv2718873
Frequency
Sample Size96
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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