A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720643



Internal ID10304279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:119659620..119660978hg38UCSC Ensembl
Outerchr2:120417196..120418554hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg381359
hg191359
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6726210, essv6813483, essv6707590, essv6693185, essv6785394, essv6910434, essv6762064, essv6914290, essv6769899, essv6714613, essv6796375, essv6793694, essv6938060, essv6810595, essv6877928, essv6683144, essv6902875, essv6892651, essv6797849, essv6955380, essv6880685, essv6840345, essv6729977, essv6968357, essv6942223, essv6753793, essv6718512, essv6789557, essv6781270, essv6847605, essv6773792, essv6698043, essv6962136, essv6906482, essv6821539, essv6817008, essv6919984, essv6722347, essv6898894, essv6829339, essv6679540, essv6847109, essv6733736, essv6933709, essv6973025, essv6825374, essv6836544, essv6889320, essv6742427, essv6953228, essv6917814, essv6710946, essv6886248, essv6804703, essv6689612, essv6750885, essv6823598, essv6929480, essv6669566, essv6869002, essv6704180, essv6859616, essv6777301, essv6864414, essv6764412, essv6832924, essv6700012, essv6675557, essv6926011, essv6883522, essv6950937, essv6872004, essv6686458
SamplesSSM100, SSM036, SSM083, SSM071, SSM027, SSM045, SSM046, SSM011, SSM079, SSM065, SSM097, SSM039, SSM013, SSM093, SSM074, SSM042, SSM088, SSM002, SSM041, SSM057, SSM023, SSM058, SSM028, SSM084, SSM090, SSM021, SSM047, SSM069, SSM029, SSM096, SSM062, SSM026, SSM089, SSM017, SSM019, SSM035, SSM094, SSM032, SSM003, SSM031, SSM067, SSM044, SSM001, SSM014, SSM086, SSM033, SSM066, SSM006, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM015, SSM078, SSM016, SSM053, SSM080, SSM037, SSM077, SSM076, SSM022, SSM091, SSM070, SSM095, SSM025, SSM034, SSM004, SSM043, SSM098, SSM049, SSM063
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)esv2720643
Frequency
Sample Size96
Observed Gain0
Observed Loss73
Observed Complex0
Frequencyn/a


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