A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2721667

Internal ID9955964
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:233713578..233729820hg38UCSC Ensembl
Outerchr2:234622224..234638466hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6667131, essv6942348, essv6922236, essv6859770, essv6962326, essv6762124, essv6785512, essv6669741, essv6953995, essv6906612, essv6955563, essv6892741, essv6770002, essv6968459, essv6917920, essv6726305, essv6872084, essv6878004, essv6722449, essv6707678, essv6933802, essv6864550, essv6697330, essv6797961, essv6789650, essv6718603, essv6700136, essv6736348, essv6821640, essv6711036, essv6829437, essv6929586, essv6880761, essv6896170, essv6788499, essv6853962, essv6759407, essv6962325, essv6889427, essv6804783, essv6910534, essv6917921, essv6869080, essv6840436, essv6675670, essv6693302, essv6840435, 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
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2721667
Sample Size96
Observed Gain0
Observed Loss51
Observed Complex0

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