A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732971



Internal ID10316607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:157278722..157282176hg38UCSC Ensembl
Outerchr6:157699754..157703208hg19UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg383455
hg193455
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6743274, essv6704632, essv6878711, essv6841370, essv6808532, essv6899797, essv6694286, essv6845063, essv6872873, essv6671301, essv6767634, essv6926920, essv6701219, essv6903827, essv6723351, essv6818393, essv6748850, essv6760140, essv6694285, essv6881521, essv6774690, essv6730989, essv6708541, essv6962328, essv6746041, essv6875837, essv6814437, essv6737060, essv6943568, essv6826965, essv6762726, essv6719562, essv6667636, essv6845064, essv6798989, essv6903828, essv6833885, essv6711950, essv6957209, essv6918952, essv6719561, essv6907714, essv6826531, essv6926921, essv6690585, essv6861014, essv6911461, essv6918953, essv6676693, essv6930570, essv6814436, essv6705146, essv6711951
SamplesSSM100, SSM036, SSM075, SSM045, SSM064, SSM039, SSM013, SSM093, SSM050, SSM042, SSM088, SSM041, SSM023, SSM092, SSM084, SSM047, SSM061, SSM062, SSM026, SSM017, SSM019, SSM094, SSM032, SSM031, SSM044, SSM014, SSM066, SSM006, SSM085, SSM040, SSM072, SSM082, SSM020, SSM015, SSM078, SSM053, SSM080, SSM037, SSM077, SSM010, SSM091, SSM055, SSM004, SSM056, SSM030
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)esv2732971
Frequency
Sample Size96
Observed Gain0
Observed Loss45
Observed Complex0
Frequencyn/a


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