A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736770



Internal ID9971102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:25209140..25213128hg38UCSC Ensembl
Outerchr8:25066656..25070644hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg383989
hg193989
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6749205, essv6701741, essv6708958, essv6900158, essv6834339, essv6734778, essv6791182, essv6766220, essv6970069, essv6856162, essv6712426, essv6716145, essv6740503, essv6799523, essv6760502, essv6737422, essv6830733, essv6691039, essv6787074, essv6757815, essv6771429, essv6803027, essv6860409, essv6778818, essv6975919, essv6684523, essv6939670, essv6795327, essv6850139, essv6870258, essv6755027, essv6800676, essv6805902, essv6698327, essv6919508, essv6879041, essv6687779, essv6904473, essv6680991, essv6866323, essv6897182, essv6958098, essv6915598, essv6682709, essv6814877, essv6881860, essv6964704, essv6861581, essv6811759, essv6808879, essv6733543, essv6893321, essv6705635, essv6775129, essv6873228, essv6827029, essv6723872, essv6683088, essv6752081, essv6830431, essv6768016, essv6923651, essv6762988, essv6822984, essv6818911, essv6838013, essv6876192, essv6720063, essv6727716, essv6887490, essv6966239, essv6707398, essv6935388
SamplesSSM010, SSM065, SSM022, SSM007, SSM027, SSM092, SSM082, SSM086, SSM006, SSM036, SSM091, SSM033, SSM061, SSM099, SSM042, SSM040, SSM078, SSM043, SSM088, SSM089, SSM090, SSM064, SSM035, SSM072, SSM071, SSM016, SSM057, SSM001, SSM039, SSM045, SSM067, SSM094, SSM083, SSM050, SSM041, SSM077, SSM062, SSM005, SSM012, SSM093, SSM100, SSM056, SSM017, SSM009, SSM011, SSM066, SSM028, SSM029, SSM073, SSM069, SSM021, SSM002, SSM034, SSM087, SSM038, SSM046, SSM096, SSM079, SSM052, SSM044, SSM074, SSM004, SSM075, SSM026, SSM049, SSM008, SSM018, SSM076, SSM058, SSM059, SSM081, SSM070, SSM080
Known GenesDOCK5
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)esv2736770
Frequency
Sample Size96
Observed Gain0
Observed Loss73
Observed Complex0
Frequencyn/a


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