A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737123



Internal ID10320759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:67815072..67815444hg38UCSC Ensembl
Outerchr8:68727307..68727679hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg38373
hg19373
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6939692, essv6708986, essv6723897, essv6687809, essv6701778, essv6787110, essv6823022, essv6716174, essv6964766, essv6923680, essv6712455, essv6887524, essv6904347, essv6768038, essv6911980, essv6908254, essv6830759, essv6890757, essv6771456, essv6860731, essv6884688, essv6818960, essv6866366, essv6705662, essv6677193, essv6720088, essv6775159, essv6919536, essv6850190, essv6879066, essv6827067, essv6811785, essv6870288, essv6755058, essv6683377, essv6746390, essv6944209, essv6841866, essv6861625, essv6782902, essv6800955, essv6876213, essv6856224, essv6799561, essv6975986, essv6927399, essv6873255, essv6691073, essv6681023, essv6894101, essv6778848, essv6948437, essv6834366, essv6958161, essv6694875, essv6952594, essv6740533, essv6808906, essv6897203, essv6830620, essv6698344, essv6791212, essv6733743, essv6915623, essv6838039, essv6805922, essv6684559, essv6795367, essv6931161, essv6814904, essv6970105, essv6893654, essv6933974
SamplesSSM036, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM011, SSM064, SSM079, SSM065, SSM087, SSM038, SSM097, SSM039, SSM013, SSM009, SSM093, SSM074, SSM042, SSM088, SSM041, SSM023, SSM058, SSM028, SSM092, SSM084, SSM090, SSM018, SSM069, SSM029, SSM096, SSM026, SSM089, SSM017, SSM019, SSM035, SSM032, SSM003, SSM067, SSM044, SSM014, SSM086, SSM033, SSM066, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM005, SSM080, SSM037, SSM077, SSM076, SSM022, SSM010, SSM091, SSM055, SSM070, SSM095, SSM025, SSM034, SSM099, SSM043, SSM052, SSM098, 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)esv2737123
Frequency
Sample Size96
Observed Gain0
Observed Loss73
Observed Complex0
Frequencyn/a


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