A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728040



Internal ID9962352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:248187679..248188758hg38UCSC Ensembl
Outerchr1:248350981..248352060hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg381080
hg191080
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv65e201
Supporting Variantsessv6697146, essv6929297, essv6878687, essv6801794, essv6821401, essv6697145, essv6961891, essv6950779, essv6910279, essv6914170, essv6679398, essv6840172, essv6669308, essv6747962, essv6937893, essv6972745, essv6722211, essv6671010, essv6840173, essv6955102, essv6675420, essv6679397, essv6853566, essv6669307, essv6836392, essv6781093, essv6921958, essv6710790, essv6874884, essv6961890, essv6742323, essv6937892, essv6825214, essv6961892, essv6789398, essv6718372
SamplesSSM022, SSM027, SSM092, SSM053, SSM033, SSM084, SSM042, SSM031, SSM025, SSM020, SSM016, SSM032, SSM045, SSM083, SSM005, SSM012, SSM056, SSM029, SSM073, SSM087, SSM038, SSM079, SSM068, SSM044, SSM015, SSM026, SSM018, SSM070, SSM080
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)esv2728040
Frequency
Sample Size96
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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