A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721667



Internal ID5068957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:234622224..234638466hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg19n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsessv6667131, essv6942348, essv6922236, essv6859770, essv6962326, essv6785512, essv6762124, essv6669741, essv6953995, essv6906612, essv6955563, essv6892741, essv6770002, essv6968459, essv6917920, essv6726305, essv6872084, essv6878004, essv6722449, essv6707678, essv6933802, essv6864550, essv6697330, essv6797961, essv6789650, essv6718603, essv6700136, essv6736348, essv6821640, essv6829437, essv6711036, essv6929586, essv6880761, essv6896170, essv6788499, essv6853962, essv6759407, essv6962325, essv6889427, essv6804783, essv6910534, essv6917921, essv6869080, essv6840436, essv6675670, essv6840435, essv6693302, essv6920862, essv6847781, essv6973245, essv6679630, essv6739243, essv6902970, essv6764479
SamplesSSM065, SSM027, SSM013, SSM086, SSM091, SSM033, SSM084, SSM061, SSM099, SSM042, SSM088, SSM089, SSM090, SSM031, SSM072, SSM020, SSM032, SSM039, SSM045, SSM094, SSM050, SSM097, SSM041, SSM062, SSM093, SSM017, SSM009, SSM028, SSM029, SSM003, SSM030, SSM069, SSM021, SSM037, SSM063, SSM087, SSM038, SSM046, SSM023, SSM079, SSM052, SSM044, SSM074, SSM004, SSM015, SSM026, SSM014, SSM098, SSM018, SSM081, SSM070
Known GenesUGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9
Method
Analysis
PlatformIllumina HiSeq2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2721667
Frequency
Sample Size96
Observed Gain0
Observed Loss51
Observed Complex0
Frequencyn/a


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