A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3626720



Internal ID6666868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:67738871..67968248hg38UCSC Ensembl
Innerchr11:67739371..67967748hg38UCSC Ensembl
Outerchr11:67737871..67969248hg38UCSC Ensembl
chr11:67506342..67735719hg19UCSC Ensembl
Innerchr11:67506842..67735219hg19UCSC Ensembl
Outerchr11:67505342..67736719hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg38229378
hg19229378
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14198463, essv14198486, essv14198478, essv14198496, essv14198459, essv14198471, essv14198479, essv14198461, essv14198475, essv14198476, essv14198484, essv14198480, essv14198468, essv14198495, essv14198467, essv14198481, essv14198460, essv14198465, essv14198470, essv14198493, essv14198487, essv14198464, essv14198492, essv14198462, essv14198497, essv14198482, essv14198494, essv14198485, essv14198472, essv14198490, essv14198477, essv14198483, essv14198469, essv14198491, essv14198473, essv14198474, essv14198488, essv14198466, essv14198489
SamplesHG01372, NA18528, HG01250, HG00500, NA18612, HG00707, HG02139, HG02048, NA18947, NA18608, HG03920, NA20539, HG00698, HG00651, HG01861, HG02047, NA18596, NA18624, NA18967, NA18622, HG00759, NA18644, NA20754, NA18592, NA18609, HG00419, NA19086, HG01599, HG02304, HG03849, HG02026, HG00410, NA18987, NA18560, NA18577, HG00654, HG04015, HG02130, HG00531
Known GenesFAM86C2P
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3626720
Frequency
Sample Size2504
Observed Gain0
Observed Loss39
Observed Complex0
Frequencyn/a


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