A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728062



Internal ID9962374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:248187779..248188766hg38UCSC Ensembl
Outerchr1:248351081..248352068hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38988
hg19988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv65e201
Supporting Variantsessv6972745, essv6742323, essv6697145, essv6769751, essv6829203, essv6921958, essv6836393, essv6801794, essv6707461, essv6697146, essv6750487, essv6773658, essv6955102, essv6914170, essv6950779, essv6693018, essv6892523, essv6789398, essv6950780, essv6896016, essv6821401, essv6821402, essv6739023, essv6669308, essv6813358, essv6937893, essv6718372, essv6679398, essv6889211, essv6847369, essv6961892, essv6683016, essv6878687, essv6840173, essv6825214, essv6871892, essv6747962, essv6781094, essv6961891, essv6874884, essv6777145, essv6722211, essv6671010, essv6840172
SamplesSSM008, SSM083, SSM027, SSM045, SSM079, SSM065, SSM038, SSM097, SSM073, SSM041, SSM092, SSM084, SSM018, SSM029, SSM026, SSM031, SSM067, SSM044, SSM086, SSM033, SSM066, SSM068, SSM081, SSM016, SSM053, SSM005, SSM080, SSM037, SSM077, SSM022, SSM091, SSM070, SSM025, SSM034, SSM099, SSM052, SSM098, SSM056, 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)esv2728062
Frequency
Sample Size96
Observed Gain0
Observed Loss39
Observed Complex0
Frequencyn/a


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