A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737381



Internal ID10321017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:103370609..103371083hg38UCSC Ensembl
Outerchr8:104382837..104383311hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg38475
hg19475
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6760559, essv6893843, essv6734810, essv6731529, essv6964813, essv6765434, essv6766832, essv6746408, essv6667924, essv6743612, essv6737463, essv6740563, essv6749248, essv6733998, essv6752129, essv6685931, essv6707676, essv6801254, essv6935446, essv6856269, essv6755080, essv6966706, essv6771488, essv6716191, essv6757861, essv6976035, essv6904885, essv6763021, essv6681049
SamplesSSM059, SSM008, SSM027, SSM065, SSM087, SSM009, SSM050, SSM002, SSM057, SSM058, SSM021, SSM047, SSM061, SSM029, SSM062, SSM001, SSM033, SSM006, SSM007, SSM053, SSM055, SSM004, SSM043, SSM052, 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)esv2737381
Frequency
Sample Size96
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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