A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640473



Internal ID7027248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:36507699..36538931hg38UCSC Ensembl
chr17:34863538..34894780hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3831233
hg1931243
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15666450, essv15666454, essv15666451, essv15666447, essv15666448, essv15666449, essv15666446, essv15666445, essv15666452, essv15666453, essv15666455
SamplesHG01986, NA20359, NA20287, NA19707, HG02144, HG02508, HG03472, HG02283, HG01990, NA20362, HG03439
Known GenesMYO19, PIGW
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640473
Frequency
Sample Size2504
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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