A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723203



Internal ID9957503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:17239985..17241386hg38UCSC Ensembl
Outerchr21:18612303..18613704hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg381402
hg191402
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6917306, essv6902420, essv6821061, essv6941655, essv6885902, essv6753430, essv6776813, essv6769417, essv6695176, essv6843775, essv6853066, essv6875864, essv6718045, essv6906013, essv6859034, essv6832462, essv6761788, essv6744868, essv6950416, essv6710491, essv6913880, essv6780725, essv6807290, essv6742055, essv6696900, essv6747701, essv6961321, essv6967757, essv6815976, essv6733386, essv6721873, essv6756468, essv6824849, essv6836056, essv6668835, essv6883183, essv6949196, essv6795042, essv6804333, essv6916007, essv6843110, essv6750522, essv6668465, essv6707181, essv6766469, essv6729502, essv6846888, essv6764114, essv6784851, essv6946355, essv6937544
SamplesSSM027, SSM024, SSM046, SSM011, SSM064, SSM079, SSM087, SSM013, SSM009, SSM073, SSM074, SSM002, SSM041, SSM057, SSM023, SSM058, SSM084, SSM021, SSM047, SSM061, SSM062, SSM026, SSM094, SSM003, SSM067, SSM044, SSM001, SSM086, SSM066, SSM085, SSM068, SSM081, SSM040, SSM082, SSM015, SSM078, SSM016, SSM053, SSM005, SSM037, SSM022, SSM010, SSM055, SSM095, SSM004, SSM043, SSM052, SSM056, SSM030, SSM063, SSM012
Known Genes
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)esv2723203
Frequency
Sample Size96
Observed Gain0
Observed Loss51
Observed Complex0
Frequencyn/a


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