A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3626902



Internal ID6667050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:78524451..78661281hg38UCSC Ensembl
chr11:78235497..78372326hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg38136831
hg19136830
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv211e214
Supporting Variantsessv14215350, essv14215348, essv14215351, essv14215346, essv14215349, essv14215352, essv14215347
SamplesHG02784, HG03895, HG03837, HG03644, HG03672, NA20888, HG02778
Known GenesNARS2, TENM4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3626902
Frequency
Sample Size2504
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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