A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736725



Internal ID9971057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:19479425..19480111hg38UCSC Ensembl
Outerchr8:19336936..19337622hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38687
hg19687
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6923646, essv6760497, essv6731476, essv6952560, essv6775125, essv6893243, essv6805896, essv6873218, essv6856152, essv6766187, essv6701731, essv6933641, essv6964697, essv6894071, essv6712422, essv6904315, essv6944158, essv6808873, essv6684519, essv6708953, essv6861574, essv6850129, essv6870251, essv6705628, essv6698322, essv6845450, essv6800610, essv6958086, essv6919501, essv6970059, essv6723864, essv6740500, essv6795322, essv6884658, essv6911943, essv6939667, essv6672052, essv6720057, essv6948414, essv6716138, essv6827023, essv6830376, essv6743570, essv6746357, essv6680986, essv6887480, essv6791173, essv6691030, essv6931124, essv6677153, essv6694844, essv6727706, essv6768011, essv6975912, essv6733488, essv6782850, essv6841824, essv6966173, essv6803022, essv6927368, essv6866316, essv6830727, essv6814871, essv6778813, essv6799513, essv6935384, essv6860353, essv6838004
SamplesSSM010, SSM022, SSM007, SSM027, SSM013, SSM053, SSM086, SSM036, SSM055, SSM091, SSM033, SSM084, SSM061, SSM042, SSM040, SSM043, SSM088, SSM089, SSM090, SSM064, SSM031, SSM025, SSM072, SSM020, SSM071, SSM032, SSM039, SSM024, SSM045, SSM067, SSM083, SSM041, SSM077, SSM012, SSM085, SSM017, SSM009, SSM011, SSM066, SSM028, SSM029, SSM003, SSM095, SSM047, SSM073, SSM021, SSM037, SSM034, SSM087, SSM038, SSM046, SSM019, SSM096, SSM023, SSM052, SSM068, SSM044, SSM074, SSM004, SSM075, SSM015, SSM026, SSM008, SSM098, SSM018, SSM081, SSM070, SSM080
Known GenesCSGALNACT1
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)esv2736725
Frequency
Sample Size96
Observed Gain0
Observed Loss68
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer