A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721668



Internal ID3272164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:233722807..233725359hg38UCSC Ensembl
Outerchr2:234631453..234634005hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg382553
hg192553
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6667131, essv6942348, essv6922236, essv6859770, essv6962326, essv6785512, essv6762124, essv6953995, essv6669741, essv6906612, essv6955563, essv6892741, essv6770002, essv6968459, essv6726305, essv6872084, essv6878004, essv6722449, essv6707678, essv6933802, essv6864550, essv6697330, essv6797961, essv6789650, essv6718603, essv6700136, essv6736348, essv6821640, essv6829437, essv6711036, essv6929586, essv6880761, essv6896170, essv6788499, essv6853962, essv6759407, essv6889427, essv6804783, essv6910534, essv6917921, essv6869080, essv6675670, essv6840436, 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, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9
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)esv2721668
Frequency
Sample Size96
Observed Gain0
Observed Loss51
Observed Complex0
Frequencyn/a


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