A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722495



Internal ID10306131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:212526687..212530468hg38UCSC Ensembl
Outerchr1:212700029..212703810hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg383782
hg193782
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6689406, essv6707401, essv6736110, essv6812154, essv6777089, essv6818009, essv6714407, essv6764290, essv6807516, essv6720109, essv6825148, essv6718311, essv6895975, essv6868851, essv6753640, essv6877790, essv6793469, essv6681931, essv6786087, essv6726010, essv6898747, essv6761957, essv6759191, essv6733612, essv6874839, essv6697112, essv6670499, essv6682967, essv6704002, essv6951684, essv6906268, essv6804546, essv6750020, essv6892470, essv6889151, essv6878209, essv6832738, essv6921907, essv6797623, essv6785158, essv6747921, essv6918107, essv6961803, essv6864159, essv6666993, essv6801755, essv6773603, essv6871849, essv6883382, essv6844023, essv6821344
SamplesSSM100, SSM036, SSM008, SSM071, SSM027, SSM075, SSM046, SSM079, SSM038, SSM097, SSM009, SSM073, SSM093, SSM050, SSM074, SSM002, SSM041, SSM058, SSM092, SSM090, SSM018, SSM069, SSM061, SSM062, SSM089, SSM003, SSM067, SSM044, SSM001, SSM014, SSM066, SSM085, SSM040, SSM072, SSM082, SSM007, SSM005, SSM080, SSM010, SSM091, SSM095, SSM034, SSM004, SSM099, SSM043, SSM098, SSM049, SSM056, SSM030, SSM063, 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)esv2722495
Frequency
Sample Size96
Observed Gain0
Observed Loss51
Observed Complex0
Frequencyn/a


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