A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15659303



Internal ID5926936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:32529459..32596579hg38UCSC Ensembl
chr17:30856477..30923597hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3867121
hg1967121
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640387
Supporting Variants
SamplesNA19334
Known GenesMYO1D
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15659303
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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