A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3626741



Internal ID7013571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:68778750..68779434hg38UCSC Ensembl
Innerchr11:68778770..68779414hg38UCSC Ensembl
Outerchr11:68778730..68779454hg38UCSC Ensembl
chr11:68546218..68546902hg19UCSC Ensembl
Innerchr11:68546238..68546882hg19UCSC Ensembl
Outerchr11:68546198..68546922hg19UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg38685
hg19685
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14202660, essv14202663, essv14202646, essv14202647, essv14202653, essv14202652, essv14202662, essv14202658, essv14202664, essv14202666, essv14202649, essv14202661, essv14202656, essv14202651, essv14202670, essv14202668, essv14202650, essv14202669, essv14202654, essv14202655, essv14202657, essv14202665, essv14202648, essv14202667, essv14202671, essv14202659
SamplesNA18599, NA18639, HG02394, HG02023, NA19068, NA18567, HG01840, HG02131, HG02389, HG00406, HG02397, HG00583, NA18630, HG03854, NA18536, NA18546, HG00407, NA18543, NA18992, NA19083, HG02371, HG01804, HG02396, NA18552, HG03931, HG00978
Known GenesCPT1A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3626741
Frequency
Sample Size2504
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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