A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734948



Internal ID10318584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:102848173..102848594hg38UCSC Ensembl
Outerchr7:102488620..102489041hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38422
hg19422
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6952246, essv6939361, essv6760283, essv6786751, essv6826733, essv6701439, essv6762827, essv6841552, essv6911646, essv6884478, essv6845219, essv6923386, essv6857965, essv6676895, essv6904023, essv6834092, essv6830482, essv6890490, essv6740274, essv6681254, essv6723563, essv6802814, essv6805705, essv6899958, essv6767804, essv6855717, essv6837753, essv6957558, essv6878859, essv6799211, essv6790857, essv6861268, essv6671619, essv6822744, essv6694552, essv6849657, essv6687528, essv6751850, essv6684282, essv6754805, essv6727451, essv6887274, essv6865986, essv6782526, essv6931507, essv6935083, essv6828342, essv6774871, essv6719757, essv6808675, essv6708704, essv6893837, essv6690764, essv6963995, essv6795001, essv6907915, essv6964256, essv6881667, essv6975362
SamplesSSM100, SSM036, SSM083, SSM071, SSM027, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM087, SSM097, SSM039, SSM013, SSM073, SSM093, SSM074, SSM088, SSM041, SSM057, SSM058, SSM084, SSM021, SSM018, SSM069, SSM061, SSM029, SSM096, SSM062, SSM026, SSM089, SSM035, SSM094, SSM032, SSM003, SSM031, SSM044, SSM014, SSM086, SSM066, SSM085, SSM068, SSM081, SSM072, SSM082, SSM015, SSM005, SSM080, SSM037, SSM022, SSM010, SSM070, SSM095, SSM025, SSM034, SSM004, SSM052, SSM098
Known GenesFBXL13
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)esv2734948
Frequency
Sample Size96
Observed Gain0
Observed Loss59
Observed Complex0
Frequencyn/a


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