A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719029



Internal ID10302665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:164699734..164702936hg38UCSC Ensembl
Outerchr1:164668971..164672173hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg383203
hg193203
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6859338, essv6868811, essv6929192, essv6810437, essv6843984, essv6785743, essv6686251, essv6813270, essv6670177, essv6669146, essv6871812, essv6906224, essv6718269, essv6742247, essv6883337, essv6745040, essv6886074, essv6877809, essv6917729, essv6785117, essv6817710, essv6877755
SamplesSSM009, SSM093, SSM088, SSM090, SSM069, SSM096, SSM035, SSM003, SSM031, SSM044, SSM014, SSM085, SSM020, SSM053, SSM005, SSM077, SSM076, SSM010, SSM091, SSM055, SSM095, SSM012
Known GenesPBX1
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)esv2719029
Frequency
Sample Size96
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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