A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719895



Internal ID9954189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:179638136..179638926hg38UCSC Ensembl
Outerchr1:179607271..179608061hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38791
hg19791
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6929202, essv6816751, essv6675328, essv6742255, essv6699737, essv6840093, essv6954954, essv6719821, essv6859348, essv6670243, essv6785809, essv6937809, essv6714372, essv6817798, essv6836307, essv6933435, essv6801727, essv6747894, essv6697081, essv6895951, essv6707365, essv6877898, essv6686258, essv6753618, essv6883347, essv6682939, essv6722115, essv6832706, essv6797584, essv6868819, essv6951340, essv6914103, essv6941932, essv6745048, essv6898719, essv6807485, essv6789285, essv6821312, essv6669161, essv6781011, essv6910180, essv6813278, essv6925810, essv6679302, essv6847228, essv6703962
SamplesSSM010, SSM022, SSM007, SSM053, SSM082, SSM086, SSM055, SSM033, SSM084, SSM099, SSM040, SSM078, SSM043, SSM088, SSM090, SSM031, SSM035, SSM072, SSM020, SSM016, SSM032, SSM039, SSM045, SSM083, SSM041, SSM077, SSM005, SSM012, SSM100, SSM056, SSM009, SSM095, SSM073, SSM021, SSM034, SSM038, SSM019, SSM023, SSM079, SSM068, SSM004, SSM075, SSM015, SSM026, SSM058, SSM070
Known GenesTDRD5
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)esv2719895
Frequency
Sample Size96
Observed Gain0
Observed Loss46
Observed Complex0
Frequencyn/a


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