A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv568e214



Internal ID22756462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:32529459..32600518hg38UCSC Ensembl
chr17:30856477..30927536hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3871060
hg1971060
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3640388, esv3640387
SamplesHG02360, NA19461, NA19436, NA19334
Known GenesMYO1D
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv568e214
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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