A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721519



Internal ID10305155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:222616948..222617278hg38UCSC Ensembl
Outerchr2:223481667..223481997hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg38331
hg19331
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6700124, essv6683231, essv6836623, essv6730048, essv6766868, essv6962304, essv6797948, essv6853945, essv6877994, essv6821627, essv6825493, essv6906601, essv6892726, essv6848043, essv6718589, essv6817138, essv6781368, essv6840423, essv6889413, essv6847759, essv6804767, essv6898981
SamplesSSM100, SSM083, SSM027, SSM011, SSM064, SSM079, SSM087, SSM097, SSM039, SSM093, SSM074, SSM084, SSM047, SSM044, SSM014, SSM086, SSM068, SSM072, SSM078, SSM080, SSM034, SSM098
Known GenesFARSB
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)esv2721519
Frequency
Sample Size96
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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