A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732904



Internal ID9967226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:152068802..152071081hg38UCSC Ensembl
Outerchr6:152389937..152392216hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg382280
hg192280
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6947912, essv6930559, essv6729754, essv6778306, essv6730982, essv6822540, essv6939127, essv6963908, essv6671282, essv6826909, essv6754650, essv6767629, essv6796587, essv6878706, essv6962273, essv6794769, essv6833880, essv6890319, essv6893638, essv6888888, essv6808526, essv6802661, essv6708536, essv6719554, essv6667632, essv6743267, essv6723339, essv6818381, essv6861007, essv6911454, essv6770923, essv6923176, essv6856120, essv6684093, essv6701204, essv6748842, essv6903821, essv6814429, essv6676685, essv6765102, essv6757490, essv6929684, essv6943556, essv6790612, essv6805536, essv6887104, essv6694275, essv6746034, essv6698008, essv6926912, essv6898264, essv6830284, essv6869863, essv6690577, essv6855394, essv6679687, essv6680494, essv6865720, essv6715640, essv6899793, essv6915155, essv6957193
SamplesSSM010, SSM065, SSM022, SSM007, SSM027, SSM013, SSM053, SSM082, SSM036, SSM055, SSM033, SSM078, SSM043, SSM088, SSM089, SSM090, SSM064, SSM031, SSM020, SSM071, SSM016, SSM032, SSM039, SSM024, SSM045, SSM067, SSM097, SSM041, SSM077, SSM005, SSM012, SSM093, SSM100, SSM056, SSM009, SSM011, SSM003, SSM030, SSM047, SSM073, SSM002, SSM037, SSM034, SSM063, SSM087, SSM038, SSM019, SSM096, SSM023, SSM079, SSM044, SSM074, SSM004, SSM075, SSM015, SSM026, SSM098, SSM018, SSM058, SSM059, SSM081, SSM070
Known GenesESR1
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)esv2732904
Frequency
Sample Size96
Observed Gain0
Observed Loss62
Observed Complex0
Frequencyn/a


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