A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3626721



Internal ID7013551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:67742280..67808524hg38UCSC Ensembl
chr11:67509751..67575995hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg3866245
hg1966245
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14198519, essv14198529, essv14198501, essv14198527, essv14198537, essv14198508, essv14198498, essv14198516, essv14198533, essv14198528, essv14198506, essv14198502, essv14198525, essv14198507, essv14198512, essv14198534, essv14198530, essv14198524, essv14198500, essv14198515, essv14198499, essv14198505, essv14198521, essv14198511, essv14198514, essv14198535, essv14198536, essv14198522, essv14198523, essv14198518, essv14198510, essv14198531, essv14198503, essv14198517, essv14198526, essv14198509, essv14198532, essv14198513, essv14198520, essv14198504
SamplesNA18947, NA18592, HG02026, NA18528, NA18596, HG00654, NA18967, HG01250, HG01599, HG02130, HG01372, NA20539, NA18560, HG00419, HG02047, NA19086, NA18644, HG00500, HG00651, HG00531, HG02048, HG00410, NA18608, NA18628, HG03920, HG02304, HG02139, HG01861, HG00707, HG04015, HG03849, NA18987, NA18609, HG00698, NA18624, HG00759, NA18612, NA20754, NA18622, NA18577
Known GenesFAM86C2P
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3626721
Frequency
Sample Size2504
Observed Gain0
Observed Loss40
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer