A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745130



Internal ID10326100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:21980633..22005805hg38UCSC Ensembl
Outerchr1:22307126..22332298hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg3825173
hg1925173
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11e201
Supporting Variantsessv6764170, essv6696995, essv6895852, essv6821191, essv6946508, essv6941793, essv6797456, essv6759056, essv6836195, essv6766553, essv6686158, essv6679180, essv6699597, essv6839981, essv6950285, essv6889014, essv6967937, essv6876954, essv6898617, essv6689270, essv6703868, essv6769528, essv6933314, essv6813178, essv6692779, essv6807381, essv6784997, essv6937690, essv6859200, essv6742148, essv6804408, essv6744942, essv6880422, essv6929064, essv6925698, essv6742149, essv6722014, essv6747791, essv6876965, essv6679181, essv6802154, essv6917444, essv6843894, essv6750611, essv6801623, essv6725852, essv6950569, essv6695732, essv6718170, essv6874716, essv6843898, essv6729630, essv6868720, essv6816594, essv6735982, essv6753505, essv6853250, essv6784721, essv6718987, essv6954758, essv6883260, essv6780882, essv6950568, essv6710594, essv6824990, essv6714252, essv6784732, essv6950296, essv6707274, essv6776945, essv6789160, essv6675208, essv6906103, essv6871723, essv6793298, essv6863967, essv6910057, essv6847034, essv6816593, essv6902546, essv6810342, essv6843895, essv6972357, essv6892325, essv6921736, essv6744944, essv6668965, essv6877670, essv6832606, essv6748464, essv6761867
SamplesSSM100, SSM036, SSM008, SSM083, SSM071, SSM024, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM065, SSM087, SSM038, SSM097, SSM039, SSM013, SSM009, SSM073, SSM093, SSM050, SSM074, SSM042, SSM088, SSM002, SSM041, SSM057, SSM023, SSM058, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM061, SSM029, SSM062, SSM026, SSM089, SSM017, SSM019, SSM035, SSM094, SSM032, SSM031, SSM067, SSM044, SSM014, SSM086, SSM033, SSM006, SSM085, SSM068, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM078, SSM053, SSM080, SSM037, SSM077, SSM076, SSM022, SSM091, SSM055, SSM070, SSM095, SSM025, SSM004, SSM099, SSM043, SSM098, SSM056, SSM063, SSM012
Known GenesCELA3A, CELA3B
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)esv2745130
Frequency
Sample Size96
Observed Gain0
Observed Loss82
Observed Complex0
Frequencyn/a


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