A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv573e214



Internal ID20121996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:36461232..36515958hg38UCSC Ensembl
chr17:34817046..34871801hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3854727
hg1954756
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3640470, esv3640469
SamplesHG01986, NA20359, NA20287, NA19707, HG02144, HG02508, HG03472, HG02283, HG01990, NA20362, HG03439
Known GenesMYO19, ZNHIT3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv573e214
Frequency
Sample Size2504
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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