A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3625466



Internal ID7012300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:17112814..17113954hg38UCSC Ensembl
Innerchr11:17112814..17113954hg38UCSC Ensembl
Outerchr11:17112576..17114178hg38UCSC Ensembl
chr11:17134361..17135501hg19UCSC Ensembl
Innerchr11:17134361..17135501hg19UCSC Ensembl
Outerchr11:17134123..17135725hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg381141
hg191141
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14039742, essv14039747, essv14039736, essv14039740, essv14039737, essv14039749, essv14039744, essv14039750, essv14039739, essv14039748, essv14039741, essv14039745, essv14039746, essv14039738, essv14039743
SamplesHG02624, HG03436, HG03452, NA19041, HG01308, HG02623, HG02716, HG01247, HG01104, HG01162, HG02511, HG01047, HG03388, HG03442, NA19316
Known GenesPIK3C2A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3625466
Frequency
Sample Size2504
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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