A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641453



Internal ID7028227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:83087861..83110365hg38UCSC Ensembl
chr17:81045737..81067315hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3822505
hg1921579
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15771406, essv15771407, essv15771412, essv15771403, essv15771399, essv15771410, essv15771401, essv15771404, essv15771408, essv15771414, essv15771396, essv15771411, essv15771405, essv15771400, essv15771402, essv15771397, essv15771398, essv15771413, essv15771415, essv15771409
SamplesNA18861, HG02973, HG03130, NA18504, NA19379, HG03099, NA19138, NA19904, HG03343, HG02334, HG02014, HG01990, NA19147, HG03117, HG02941, NA19324, NA19310, NA19030, HG01082, HG03129
Known GenesMETRNL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641453
Frequency
Sample Size2504
Observed Gain20
Observed Loss0
Observed Complex0
Frequencyn/a


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