A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2728062

Internal ID9962374
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:248187779..248188766hg38UCSC Ensembl
Outerchr1:248351081..248352068hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv65e201
Supporting Variantsessv6950780, essv6697146, essv6889211, essv6739023, essv6878687, essv6801794, essv6821401, essv6693018, essv6697145, essv6961891, essv6950779, essv6914170, essv6679398, essv6840172, essv6813358, essv6669308, essv6747962, essv6750487, essv6937893, essv6972745, essv6683016, essv6847369, essv6781094, essv6892523, essv6722211, essv6671010, essv6769751, essv6840173, essv6829203, essv6836393, essv6955102, essv6777145, essv6896016, essv6921958, essv6874884, essv6742323, essv6821402, essv6871892, essv6773658, essv6825214, essv6961892, essv6789398, essv6707461, essv6718372
SamplesSSM065, SSM022, SSM027, SSM092, SSM053, SSM086, SSM091, SSM033, SSM084, SSM099, SSM031, SSM025, SSM016, SSM045, SSM067, SSM083, SSM097, SSM041, SSM077, SSM005, SSM012, SSM056, SSM066, SSM029, SSM073, SSM037, SSM034, SSM038, SSM079, SSM052, SSM068, SSM044, SSM026, SSM008, SSM098, SSM018, SSM081, SSM070, SSM080
Known Genes
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2728062
Sample Size96
Observed Gain0
Observed Loss39
Observed Complex0

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