A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714562



Internal ID9948846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:89133415..89186630hg38UCSC Ensembl
Outerchr1:89599098..89652313hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg3853216
hg1953216
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6816670, essv6756602, essv6801670, essv6686211, essv6747841, essv6836252, essv6807433, essv6742199, essv6832661, essv6759110, essv6679236, essv6868769, essv6840036, essv6785198, essv6753554, essv6844454, essv6793364, essv6696176, essv6886035, essv6883302, essv6817231, essv6877714, essv6910119, essv6877364, essv6880474, essv6750658, essv6859271, essv6961667, essv6669064, essv6722062, essv6937743, essv6925756, essv6773506, essv6714305, essv6902599, essv6785064, essv6729691, essv6892386, essv6804459, essv6946557, essv6954855, essv6829070, essv6776996, essv6749165, essv6889067, essv6692845, essv6921796, essv6707313
SamplesSSM059, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM011, SSM097, SSM013, SSM009, SSM073, SSM093, SSM074, SSM088, SSM041, SSM057, SSM058, SSM084, SSM090, SSM047, SSM018, SSM069, SSM061, SSM096, SSM026, SSM019, SSM035, SSM094, SSM031, SSM067, SSM033, SSM066, SSM006, SSM081, SSM082, SSM015, SSM078, SSM053, SSM037, SSM022, SSM010, SSM095, SSM043, SSM098, SSM056, SSM012
Known GenesGBP4, GBP7
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)esv2714562
Frequency
Sample Size96
Observed Gain0
Observed Loss48
Observed Complex0
Frequencyn/a


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