A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640384



Internal ID6680471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:32525454..32545526hg38UCSC Ensembl
chr17:30852472..30872544hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3820073
hg1920073
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15659298, essv15659299
SamplesHG00096, NA19011
Known GenesMYO1D
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640384
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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